general transcription factor IIH, polypeptide 5 (GTF2H5) - coding DNA reference sequence

(used for variant description)

(last modified October 11, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_207118.2 in the GTF2H5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011758.1, covering GTF2H5 transcript NM_207118.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5023
                                      ggcgcactctgccggcaacgccg       c.-61

 .         .         .      | 02  .         .         .             g.7157
 aggcgcttctgcatctgtgggccgag | cattcttcaggtcatctgaaccttctgagaaaac    c.-1

          .         .         .      | 03  .         .         .    g.28655
 ATGGTCAACGTCTTGAAAGGAGTGCTTATAGAATG | TGATCCTGCCATGAAGCAGTTTCTG    c.60
 M  V  N  V  L  K  G  V  L  I  E  C  |  D  P  A  M  K  Q  F  L      p.20

          .         .         .         .         .         .       g.28715
 CTGTACTTGGATGAGTCCAATGCCCTGGGGAAGAAGTTCATCATTCAAGACATTGATGAC       c.120
 L  Y  L  D  E  S  N  A  L  G  K  K  F  I  I  Q  D  I  D  D         p.40

          .         .         .         .         .         .       g.28775
 ACTCACGTCTTTGTAATAGCAGAATTGGTTAATGTCCTCCAGGAGCGAGTGGGTGAATTA       c.180
 T  H  V  F  V  I  A  E  L  V  N  V  L  Q  E  R  V  G  E  L         p.60

          .         .         .                                     g.28811
 ATGGACCAAAATGCTTTTTCCCTTACCCAGAAATGA                               c.216
 M  D  Q  N  A  F  S  L  T  Q  K  X                                 p.71

          .         .         .         .         .         .       g.28871
 aaatactcaatatggaccatttaggaattataagcagcaactgtgaaagacttgccactc       c.*60

          .         .         .         .         .         .       g.28931
 aatatcttaggtgactgattagacatagagggttgttttaggagcatgccacgggaaaga       c.*120

          .         .         .         .         .         .       g.28991
 ctgagggatcatgatcatttgttcagaaaaaaagcccctgaactgattttgttaccatag       c.*180

          .         .         .         .         .         .       g.29051
 aatttaaaaaaaaaaaaagctttaacagttggctgtaatttggcttttattatcctttat       c.*240

          .         .         .         .         .         .       g.29111
 taaaatacaaatgtcaatgcttttcctgcctttttaataccatgtcagtgtaacataggt       c.*300

          .         .         .         .         .         .       g.29171
 atttattttgctcatccctgtgatctgtgcatttttgctgcgtggatgtgattgtttggt       c.*360

          .         .         .         .         .         .       g.29231
 ttcagttagaaacgtcatagatttgctgtttgaatatgccaaggtggggacttagacatt       c.*420

          .         .         .         .         .         .       g.29291
 atgtacgtctcacaaatcctacctgcataccagtcagctctattgaggaagacaatgtaa       c.*480

          .         .         .         .         .         .       g.29351
 aactaatgtaaactacagtttgcatttccctgaaaacagaatattgtttttaagagggtt       c.*540

          .         .         .         .         .         .       g.29411
 agaaacaaccagtgggaaaggcacatgctgctttgtttagtttttccttgttcaaacttt       c.*600

          .         .         .         .         .         .       g.29471
 gttggtcacattttcccatctgtattcttttttattaagaaaacagcttagggaggctga       c.*660

          .         .         .         .         .         .       g.29531
 ggtgggaggattgcttgagcccaggagtccgaggttgctacaaaaacaccattgcactct       c.*720

          .         .         .         .         .         .       g.29591
 ggcctggacaacagagagaccctgcctcaaaaaaaaaaaaaaaaaaaaaaaaaattctac       c.*780

          .         .         .         .         .         .       g.29651
 ttgtaccttattccctatgagaatacttatcaaacttatctaaaaaagaaaaataggaac       c.*840

          .         .         .         .         .         .       g.29711
 agccatatgcaaagtcagcccaacaggaaaggacatattagattaaaatacattgcggcc       c.*900

          .         .         .         .         .         .       g.29771
 tgggcttagtggctcacacctgtaatcccagcactttgggaggctgaggcaggcagatcg       c.*960

          .         .         .         .         .         .       g.29831
 cttgagtccaggagtcgaaaccctgtctctacaaaaaaaaaaatacaaaaatctgcctgt       c.*1020

          .         .         .         .         .         .       g.29891
 tgtcccagccactggggaggctgaggtaggaggtcaaggctgcagtgaaccttgatcatt       c.*1080

          .         .         .         .         .         .       g.29951
 gctactgccactccagcctaggtgacagagtgagaccctgtctccaaaaaaaaaagtgta       c.*1140

          .         .         .         .         .         .       g.30011
 tatgtatgtgtgtatatatagcaagagagagttctgtgatcaattgaaggcaaaaacagt       c.*1200

          .         .         .         .         .         .       g.30071
 aacactgagaggggctttgcttcccttcctgaagatcatgtcattggggtgggttcctgt       c.*1260

          .         .         .         .         .         .       g.30131
 aaagggaattttccaagagaaaagagaattttcatgacctgtagactcttacaaatccat       c.*1320

          .         .         .         .         .         .       g.30191
 tttacctgcttccttatggtatgtttattcaaagcacctgtgtaccatatttattcactt       c.*1380

          .         .         .         .         .         .       g.30251
 acacagcattactgaatctggaaattttcagttaggtatattttacataattcccaccca       c.*1440

          .         .         .         .         .         .       g.30311
 tataactcagtccatacagttcacagttttcattccctcatagcaatgcaaaaaattttg       c.*1500

          .         .         .         .         .         .       g.30371
 atgagttactactactaaaactagttaagtaaaagatgattcttaagaatttccaggctg       c.*1560

          .         .         .         .         .         .       g.30431
 ggcacggtggctcacgcctgtaatcccagcactttgggaggctgaggcaggcagctcacg       c.*1620

          .         .         .         .         .         .       g.30491
 aggtcaggagatcgagaccatcctgctcggtgaaaccccatctctattaaaaatacaaaa       c.*1680

          .         .         .         .         .         .       g.30551
 aattagccgggcctggtggcgggtgcctgtagtcccatctactcaggaggctgaggcagg       c.*1740

          .         .         .         .         .         .       g.30611
 agaatggcgtgaacccgggaggcggagcttgcagtaagctgagattgtgccactgcactc       c.*1800

          .         .         .         .         .         .       g.30671
 cagcctgggcgacagagggagactccatctcaaaaaaaaaaaaaaaaaaaaatgaatttc       c.*1860

          .         .         .         .         .         .       g.30731
 cagctataccaaaatgttactaatgtatcttatatttcaggcatgtctaaatcaactttt       c.*1920

          .         .         .         .         .         .       g.30791
 agtatgcctcaggcatttgtcaccaaccttttatattaacatgaaacttagaaaattttt       c.*1980

          .         .         .         .         .         .       g.30851
 gatagaatcccagagttcaaaaggtattaggatttttgccactgaagtaaaaaagagaaa       c.*2040

          .         .         .         .         .         .       g.30911
 aaaagatatttatgagaaaactattgaacagtgactgtgttgtacccgagcaagttagag       c.*2100

          .         .         .         .         .         .       g.30971
 gaacgccacactttgagacgaatttaaaagtcctttatttagctggcagccaagaggtgg       c.*2160

          .         .         .         .         .         .       g.31031
 ctcacacttggaattctctcagctccgaggaaggggcttgattttcctttatactttggt       c.*2220

          .         .         .         .         .         .       g.31091
 ttaggaaggggacgggagctcagttgcaacaattctacagaagtaaaaacatgcaaaaaa       c.*2280

          .         .         .         .         .         .       g.31151
 ttaaaaagacaaatggttacagagaaacaaacagttccaggtgcaggggctctaaatcta       c.*2340

          .         .         .         .         .         .       g.31211
 tcataagatgtcaggtgtgggggctctgccagacacaaactcaaggctttatggtgtatc       c.*2400

          .         .         .         .         .         .       g.31271
 tcttgagcgaaatcctgggaacttcgtacattgcttgcttcagtaccttatgagttaatt       c.*2460

          .         .         .         .         .         .       g.31331
 ggactctttgatatgttgagagtcagcttacacaagttaactccttgaggaaagggggtg       c.*2520

          .         .         .         .         .         .       g.31391
 ggtaaggagtccttgatgtcctgtaaatgaaggaaccaaatggagttcctccggctttct       c.*2580

          .         .         .         .         .         .       g.31451
 cagctaagggagagcttattcacatggaaacaaggctaggtgattaagggagaaagggac       c.*2640

          .         .         .         .         .         .       g.31511
 agtctgaaaacaaggttagtaaaaacaaggttaggtattagaactgcaaagagtattaag       c.*2700

          .         .         .         .         .         .       g.31571
 tgaaataagtgaaggaaaatatgagctcttatttttaaaaagttgtgttggggcaaatgt       c.*2760

          .         .         .         .         .         .       g.31631
 taaatatctttctttctctggacattattaagaaagatagagtgatgtgaatgataggaa       c.*2820

          .         .         .         .         .         .       g.31691
 gcccacctgtaaccacttagctgacatgtccaactatgggtgaacaggaaataagcgaca       c.*2880

          .         .         .         .         .         .       g.31751
 ttcacctaggctgtttattggaatctgactagcattatttgatttggcatactttacatg       c.*2940

          .         .         .         .         .         .       g.31811
 tccagaacaaggctgttggtgcttggcaccaagaaatttatgacttttttttttttttta       c.*3000

          .         .         .         .         .         .       g.31871
 aataaagtcctaaaggtagcattaaaatgacttaactggaggcaggaggatcactgaagc       c.*3060

          .         .         .         .         .         .       g.31931
 ccaggagtttgaagctgcagtaagctaagaaggtgccactgcactgcagcctggatgaca       c.*3120

          .         .         .         .         .         .       g.31991
 gagtgaaactttgtctcttaatagaactatggactgaagttgtgatattgagtgttatat       c.*3180

          .         .         .         .         .         .       g.32051
 ttctcaataaaggttttttcttttaatactgtattaggtcaaattcaaggtcttaattcc       c.*3240

          .         .         .         .         .         .       g.32111
 ttgaattccaatttccttgtgaaatttcatgtgattaatttaaaattccagggatcctat       c.*3300

          .         .         .         .         .         .       g.32171
 ctaacatcacagttgatggatataacaatgtattttgagaaatcagttttggtgaacagt       c.*3360

          .         .         .         .         .         .       g.32231
 aacagcattactgataataggcaacaaacactactgcattttatttctgataggcattat       c.*3420

          .         .         .         .         .         .       g.32291
 aggtggtaatccaaatgattaatgattttattgctctttacattttctagaacaggtgat       c.*3480

          .         .         .         .         .         .       g.32351
 ttgacataattgtacttttttctgagaagttggtagtgtacttactactctattttgcag       c.*3540

          .         .         .         .         .         .       g.32411
 ttatacaataaatcttacttagctgacaactaggagtaaaagctctgacaaaaagcctct       c.*3600

          .         .         .         .         .         .       g.32471
 gctgtaactaaaatactgagatcattctatcttaacaaacttaacagatggggaaggggt       c.*3660

          .         .         .         .         .         .       g.32531
 atattttaaagatggagaaatgatgcagtttgcaaatatagtcaataaatattctcaagt       c.*3720

          .         .         .         .         .         .       g.32591
 gtacgtagctcaatttcatttgcagcaaagataacactgaaatgtctatggatgagatta       c.*3780

          .         .         .         .         .         .       g.32651
 ttggataaacttttttaaaaacactgttctcaagataggcaagtgattaagagcactgac       c.*3840

          .         .         .         .         .         .       g.32711
 tgggccgggcgcggtggctcacgtctataatcctagcactttgggaggccgaggcgggca       c.*3900

          .         .         .         .         .         .       g.32771
 aatcacaaggtcaggagatcaaaacaatcctggctaacaaggtgaaaccccgtctctact       c.*3960

          .         .         .         .         .         .       g.32831
 aaaaatacaaaaaaattagctgggcatggtggtggacgcctgtagtcccagctactcggg       c.*4020

          .         .         .         .         .         .       g.32891
 aggctgaggcaggagaatggtgtaatcccgggaggtggaggttgcagtgagccgagatcg       c.*4080

          .         .         .         .         .         .       g.32951
 tgccactgcactccagccggggtgacagagcgagactcccacccatctcaaaaaaaataa       c.*4140

          .         .         .         .         .         .       g.33011
 aaatgaaaagcactgattgaatctagattccttgagtccaagtgtcagatctctgcttac       c.*4200

          .         .         .         .         .         .       g.33071
 tagctctgggatctcagatgtttcgttgattggatttctttgtgctcatttgtgtaaaca       c.*4260

          .         .         .         .         .         .       g.33131
 ggaatgcccgtctttaaagactattaaaatgaatgtgagttaacacacaagaggtcttca       c.*4320

          .         .         .         .         .         .       g.33191
 aaaagttgatggaaaatgcatattatgaaaaaaattatgcatagatttcaaaaatctttg       c.*4380

          .         .         .         .         .         .       g.33251
 cagcaaaataaactcatcattataacatgtctgaacaggatctagtttgaggcactaaga       c.*4440

          .         .         .         .         .         .       g.33311
 aggatatcagtttaaatagagcccctgtcagaacaatatgaattctgctaaaactgaagc       c.*4500

          .         .         .         .         .         .       g.33371
 aagaacaaacatcaaatttatggcaaagcttaggtggaagaatggtgcaatcattgatgc       c.*4560

          .         .         .         .         .         .       g.33431
 tttgcaaaaagtttatgggaacaacgccccaaggaaatcagtttacaaatggataattca       c.*4620

          .         .         .         .         .         .       g.33491
 ttttaagaaaggacaagacaatgttgaagatgaaacctacagcagcagaccatgccactt       c.*4680

          .         .         .         .         .         .       g.33551
 cgtgaggaaaaaattatctcattcatgccctacttgaagaggaccaatgattaacagcag       c.*4740

          .         .         .         .         .         .       g.33611
 aaacgatagccaacacaatatgctcctcagttggttcagcttttataaatctgactgaaa       c.*4800

          .         .         .         .         .         .       g.33671
 aattaaagttgagcacactttccactcaatggataccaaaaccatccagcccaggtcagc       c.*4860

          .         .         .         .         .         .       g.33731
 tgcagacaaaagcagagctttcgatggaaatgtcaaacaagtgagatcaagatcctgaag       c.*4920

          .         .         .         .         .         .       g.33791
 catttcttcaaagaattgtagcaaaaacagacttttaaaaccttgaattcagagacaggt       c.*4980

          .         .         .         .         .         .       g.33851
 ataaagactgcttggtgattttgaaaggactgagatcattttgggagagatcatcttcag       c.*5040

          .         .         .         .         .         .       g.33911
 aaaatgaccagatacaacaagaatttaacatggcagccaaaccaacccactaacacacat       c.*5100

          .         .         .         .         .         .       g.33971
 ttaaataagatacccaaatgcagaaagaaaagcacagtcgtcatgcaaaatagtcactac       c.*5160

          .         .         .         .         .         .       g.34031
 tcattcaaaaactctatagttgtctgagtcgttatgctcaaaatatccaataatatttct       c.*5220

          .         .         .         .         .         .       g.34091
 tttgctgagctgtaaaataattattttgcaaacataaaagaaaaaaaaaagaattgtaac       c.*5280

          .         .         .         .         .         .       g.34151
 agaaacatggctttaccagtatgaccctcaagacaaaatacaaaacaatggctaccaaga       c.*5340

          .         .         .         .         .         .       g.34211
 ggtggaagtggcccagtcacagcaagagcagattgatcaagagcaaaggtcatggtaaca       c.*5400

          .         .         .         .         .         .       g.34271
 gttttttggatcctcaagtcattttgcttgttgactttttggagggccaaataaagatat       c.*5460

          .         .         .         .         .         .       g.34331
 catctgcttattatgagagtgtttcgagagaaatccaaagcttagcagagaaacgcctgg       c.*5520

          .         .         .         .         .         .       g.34391
 gaaagcttcaccagagggtcttccaccgtgacagttcccctgcgcattcctctcataaag       c.*5580

          .         .         .         .         .         .       g.34451
 caagggcagtttagctagaatttctatcaaaaatcattaggtatccatctcccagtcctg       c.*5640

          .         .         .         .         .         .       g.34511
 atttggctccttctgacttctttttgtttcccaatcttaaaaaaatccctgaagggcacc       c.*5700

          .         .         .         .         .         .       g.34571
 tgtttttcttcagctaataaaaaagacatggttaatttcccaggaccctcagttctttag       c.*5760

          .         .         .         .         .         .       g.34631
 ggatagactgaatggctggtatcattgcttgaacttaatggagcttatgttgagaaataa       c.*5820

          .         .         .         .         .         .       g.34691
 aagaaattatattttatttttatcttttaattctatttttccatgaactttttgaagtcc       c.*5880

          .         .         .         .         .         .       g.34751
 cctcagatataaagcagaacgttatgaaactgagttaccttgaatctagaagagtacaat       c.*5940

          .         .         .         .         .         .       g.34811
 gataaaggggaagatagaaacacacacatatgcgttgttttccccactttcacaatgccg       c.*6000

          .         .         .         .         .         .       g.34871
 tgcagaaactaacagatgaaggaggagaatccctaaaaacagagcattgggtagctagtc       c.*6060

          .         .         .         .         .         .       g.34931
 caccagcggtctgatgctttcattgatctcaaaactgtctctgagtaactctaccaggaa       c.*6120

          .         .         .         .         .         .       g.34991
 agttgtctggagggttaacatttctgaaaccatttttatctttgccttcattcttgaatg       c.*6180

          .         .         .         .         .         .       g.35051
 ataattagtctcgaatgtttggatcacaatccattgaaagactaggctattttttcactg       c.*6240

          .         .         .         .         .         .       g.35111
 tcctcagacatttactgagtccagtttggactttattttattttattttttttgaaacaa       c.*6300

          .         .         .         .         .         .       g.35171
 gatctcgctctgttgctcaggctgaagtgcaatagcgcaaactcggctcactgcaacctc       c.*6360

          .         .         .         .         .         .       g.35231
 ccaggttcaagcaattctcgtgcctcagccatccctataggcatgcgccaccacactttg       c.*6420

          .         .         .         .         .         .       g.35291
 ctaatcttgtatttttggtagagacggggtttgcaccatgttggccaggctggtctcgaa       c.*6480

          .         .         .         .         .         .       g.35351
 ctcccaacctcaagtaatctggcctcccaaagtggtgggattacaggcgtgagccagcgc       c.*6540

          .         .         .         .         .         .       g.35411
 gcccggcctggacttaacttctgaagaactctttctgtttagattgcaggagcgttctct       c.*6600

          .         .         .         .         .         .       g.35471
 cggctcatctcttgttttctcacccagctgttcttcttctagttggccatcattcttcat       c.*6660

          .         .         .         .         .         .       g.35531
 ccctccctccctttcctgcagttaattatttctttgaaattttaaaacttcttaatgttg       c.*6720

          .         .         .         .         .         .       g.35591
 cctggaatacatgagtcttcctgatctcttcaaacggggtttgttttgttttgctttggg       c.*6780

          .         .         .         .         .         .       g.35651
 gagaattcttttgacgtttttgaataagctgttaacaactttaatacctgtcttgtttgt       c.*6840

          .         .         .         .         .         .       g.35711
 tttcttcagaaatttgttaattctccatgattagcacctttatgtggttatctcattatt       c.*6900

          .         .         .         .         .         .       g.35771
 ttcattcctttttaattctctgttttaggaatgcttgtcaaattcgtcactaaaattgat       c.*6960

          .         .         .         .         .         .       g.35831
 ttactttcttgaaaacctgtttctgctgctcccaacatgatttaatcttggctactgagc       c.*7020

          .         .         .         .         .         .       g.35891
 ttttggttacgttgcactccctttaaaattactccgtttaagtacagtgttcactctttg       c.*7080

          .         .         .         .         .         .       g.35951
 ggtaatgtgtacaatagaagcccaatccccacctatacccaatatatccatgggacaagc       c.*7140

          .         .         .         .                           g.35998
 atgtacatgcaccccctgagtctaaaataaaaattttaaaaaaacta                    c.*7187

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The General transcription factor IIH, polypeptide 5 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.