guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3) - coding DNA reference sequence

(used for variant description)

(last modified February 24, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_006496.3 in the GNAI3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering GNAI3 transcript NM_006496.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                               .         .         .                g.5037
                        ggaagtgtcgtaaacgtcggatatccggttcttctgg       c.-121

 .         .         .         .         .         .                g.5097
 gcgctaagggagctgacggagagggccaccgcccagcaatagacggtgcctcagcctgcc       c.-61

 .         .         .         .         .         .                g.5157
 gagccgcagtttccgtggtgtgagtgagtccgggcccgtgtcccctctcccgccgccgcc       c.-1

          .         .         .         .         .         .       g.5217
 ATGGGCTGCACGTTGAGCGCCGAAGACAAGGCGGCAGTGGAGCGAAGCAAGATGATCGAC       c.60
 M  G  C  T  L  S  A  E  D  K  A  A  V  E  R  S  K  M  I  D         p.20

          .         .         .         .         .         | 02    g.30175
 CGCAACTTACGGGAGGACGGGGAAAAAGCGGCCAAAGAAGTGAAGCTGCTGCTACTCG | GT    c.120
 R  N  L  R  E  D  G  E  K  A  A  K  E  V  K  L  L  L  L  G |       p.40

          .         .         .         .  | 03      .         .    g.30351
 GCTGGAGAATCTGGTAAAAGCACCATTGTGAAACAGATGAA | AATCATTCATGAGGATGGC    c.180
 A  G  E  S  G  K  S  T  I  V  K  Q  M  K  |  I  I  H  E  D  G      p.60

          .         .         .         .         .         .       g.30411
 TATTCAGAGGATGAATGTAAACAATATAAAGTAGTTGTCTACAGCAATACTATACAGTCC       c.240
 Y  S  E  D  E  C  K  Q  Y  K  V  V  V  Y  S  N  T  I  Q  S         p.80

          .         .         .         .         .         .       g.30471
 ATCATTGCAATCATAAGAGCCATGGGACGGCTAAAGATTGACTTTGGGGAAGCTGCCAGG       c.300
 I  I  A  I  I  R  A  M  G  R  L  K  I  D  F  G  E  A  A  R         p.100

     | 04    .         .         .         .         .         .    g.35697
 GCA | GATGATGCCCGGCAATTATTTGTTTTAGCTGGCAGTGCTGAAGAAGGAGTCATGACT    c.360
 A   | D  D  A  R  Q  L  F  V  L  A  G  S  A  E  E  G  V  M  T      p.120

          .         .         .         .         .         .       g.35757
 CCAGAACTAGCAGGAGTGATTAAACGGTTATGGCGAGATGGTGGGGTACAAGCTTGCTTC       c.420
 P  E  L  A  G  V  I  K  R  L  W  R  D  G  G  V  Q  A  C  F         p.140

          .         .         .         .  | 05      .         .    g.38892
 AGCAGATCCAGGGAATATCAGCTCAATGATTCTGCTTCATA | TTATCTAAATGATCTGGAT    c.480
 S  R  S  R  E  Y  Q  L  N  D  S  A  S  Y  |  Y  L  N  D  L  D      p.160

          .         .         .         .         .         .       g.38952
 AGAATATCCCAGTCTAACTACATTCCAACTCAGCAAGATGTTCTTCGGACGAGAGTGAAG       c.540
 R  I  S  Q  S  N  Y  I  P  T  Q  Q  D  V  L  R  T  R  V  K         p.180

          .         .         .         .         . | 06       .    g.42662
 ACCACAGGCATTGTAGAAACACATTTCACCTTCAAAGACCTATACTTCAA | GATGTTTGAT    c.600
 T  T  G  I  V  E  T  H  F  T  F  K  D  L  Y  F  K  |  M  F  D      p.200

          .         .         .         .         .         .       g.42722
 GTAGGTGGCCAAAGATCAGAACGAAAAAAGTGGATTCACTGTTTTGAGGGAGTGACAGCA       c.660
 V  G  G  Q  R  S  E  R  K  K  W  I  H  C  F  E  G  V  T  A         p.220

          .         .         .         .         .         .       g.42782
 ATTATCTTCTGTGTGGCCCTCAGTGATTATGACCTTGTTCTGGCTGAGGACGAGGAGATG       c.720
 I  I  F  C  V  A  L  S  D  Y  D  L  V  L  A  E  D  E  E  M         p.240

  | 07       .         .         .         .         .         .    g.43225
  | AACCGAATGCATGAAAGCATGAAACTGTTTGACAGCATTTGTAATAACAAATGGTTTACA    c.780
  | N  R  M  H  E  S  M  K  L  F  D  S  I  C  N  N  K  W  F  T      p.260

          .         .         .         .         .         .       g.43285
 GAAACTTCAATCATTCTCTTCCTTAACAAGAAAGACCTTTTTGAGGAAAAAATAAAGAGG       c.840
 E  T  S  I  I  L  F  L  N  K  K  D  L  F  E  E  K  I  K  R         p.280

          .         .         .     | 08   .         .         .    g.48505
 AGTCCGTTAACTATCTGTTATCCAGAATACACAG | GTTCCAATACATATGAAGAGGCAGCT    c.900
 S  P  L  T  I  C  Y  P  E  Y  T  G |   S  N  T  Y  E  E  A  A      p.300

          .         .         .         .         .         .       g.48565
 GCCTATATTCAATGCCAGTTTGAAGATCTGAACAGAAGAAAAGATACCAAGGAGATCTAT       c.960
 A  Y  I  Q  C  Q  F  E  D  L  N  R  R  K  D  T  K  E  I  Y         p.320

          .         .         .         .         .         .       g.48625
 ACTCACTTCACCTGTGCCACAGACACGAAGAATGTGCAGTTTGTTTTTGATGCTGTTACA       c.1020
 T  H  F  T  C  A  T  D  T  K  N  V  Q  F  V  F  D  A  V  T         p.340

          .         .         .         .                           g.48670
 GATGTCATCATTAAAAACAACTTAAAGGAATGTGGACTTTATTGA                      c.1065
 D  V  I  I  K  N  N  L  K  E  C  G  L  Y  X                        p.354

          .         .   | 09     .         .         .         .    g.48819
 gaagcatggatgttagtgaaag | ttactacagtgtggagtgttgagaccagacaccttttg    c.*60

          .         .         .         .         .         .       g.48879
 ctgtctcatggggcagctacaagcatgaacgggaccagggaatggcagcagcatgcagaa       c.*120

          .         .         .         .         .         .       g.48939
 tcttagcactctttagcacaatattttgtattagggaacttttaattgacatgagatgct       c.*180

          .         .         .         .         .         .       g.48999
 aaagtcagacattggaattggaagaactataaagtgtgattcgatcgtcaagacatcact       c.*240

          .         .         .         .         .         .       g.49059
 tggatttcttaatcttaaatgcttatggaagatgtgaagttgaggtgctgcattctagaa       c.*300

          .         .         .         .         .         .       g.49119
 cttcaatatgtagcttactctttttttccccccttcttaaaccaccagtggttcattttt       c.*360

          .         .         .         .         .         .       g.49179
 aaggttttttcatcaagagaagaataactttactaaattttatttctttatttgcaaaag       c.*420

          .         .         .         .         .         .       g.49239
 aatctttattaaaacaaacaatcttaactatgcacatgatgtgaccagatcatcttgaaa       c.*480

          .         .         .         .         .         .       g.49299
 atattcctctttagtaggaactctttgtttttaactcttggtatggtcagaatataatac       c.*540

          .         .         .         .         .         .       g.49359
 ttccataattacttataattctttccggttactggggctataaatacaactttttaaatg       c.*600

          .         .         .         .         .         .       g.49419
 aaatttatgttattatcctgctcaaagtaccattatggtttccatatggtaattacattg       c.*660

          .         .         .         .         .         .       g.49479
 gaaagttctgcaataagattctagttctctcttttctttaagcttatggttgaaggttaa       c.*720

          .         .         .         .         .         .       g.49539
 ccttgtttgtgcagattaccaaattactgctgatgtagtatgataaagtcagcttcttgg       c.*780

          .         .         .         .         .         .       g.49599
 atacagacacacccagggcagctgccaatcagaaatgcaaattgctaaattccaaacaga       c.*840

          .         .         .         .         .         .       g.49659
 accagtgactttgctgctacatatttactaaattgaccactttgattcttgcttgtttgt       c.*900

          .         .         .         .         .         .       g.49719
 ctcagttatagggagttttgtacatggtgcctcttgttttccatcttcatggccttttct       c.*960

          .         .         .         .         .         .       g.49779
 gttgagaaacatctaaagtgtattaacagtgcatgcttttactttgtaaatgtggtgcca       c.*1020

          .         .         .         .         .         .       g.49839
 aatccctgtttgccatcgtttttactgtaccgatgttaactgtagtaatccttagccagt       c.*1080

          .         .         .         .         .         .       g.49899
 atgttcttttgctgaaactgttgcattttgggacttttttccactttgtcatgtgtacat       c.*1140

          .         .         .         .         .         .       g.49959
 ttttaatctgttatagttggcggcagtattaaaatggtgagtaaagagcccaggtttgct       c.*1200

          .         .         .         .         .         .       g.50019
 cctgtttgtaactagtcttttctggaaatactgtcttctgtttccttttgcctttgcaga       c.*1260

          .         .         .         .         .         .       g.50079
 atgtgctttagcctttgtctgagaatgggtttaggtagaagggtttcctgaaagtctagt       c.*1320

          .         .         .         .         .         .       g.50139
 cttttggtgtaatagtattgttgaaccttaggttttatgttatatctgcatatgagtgat       c.*1380

          .         .         .         .         .         .       g.50199
 atgtgatcatgattcattttgcagatttacattttgcttgtgtggaaagttacgttcact       c.*1440

          .         .         .         .         .         .       g.50259
 tcaacctacagacccttttgtataatgtacagcaaatgtcattaaatattgaatgctcta       c.*1500

          .         .         .         .         .         .       g.50319
 ttgggggaagacaaatgaagagaatgcattttgagcatttcaaatcagtagtttgggcag       c.*1560

          .         .         .         .         .         .       g.50379
 tgccttttggggtccaatctttttggattggattctatttcatcttttgatgtgactttt       c.*1620

          .         .         .         .         .         .       g.50439
 cactagtttacaaaaaaaaggttggtggtcaacaaaaaaagcaagtcatagcagttcagt       c.*1680

          .         .         .         .         .         .       g.50499
 gcctttgttggtagtttttaactttttttgtgattctttttggaaaatcatagcttacag       c.*1740

          .         .         .         .         .         .       g.50559
 atggtataactgtattatataatggaattttctttaggtgtgggaaaacttgatctgaaa       c.*1800

          .         .         .         .         .         .       g.50619
 gaaaattatcagcttcaattggcgattgattcagtgcccacaatgtaaacagggttggta       c.*1860

          .         .         .         .         .         .       g.50679
 gttgttactcattttgaatataccttttccttattgtattctgtaatataggatcctgga       c.*1920

          .         .         .         .         .         .       g.50739
 aatgagacctggtggaatattattttcaactgtagtctttctatactgtggactaatgaa       c.*1980

          .         .         .         .         .         .       g.50799
 atggtgttgttgataatctaaaataaccaataatccaaaaaagttcattttactttgaat       c.*2040

          .         .         .         .         .         .       g.50859
 ttgtattttcatttgaatatctatctgatatgttaaatttttagcccttctgttaaagaa       c.*2100

          .         .         .         .         .         .       g.50919
 aaatagcaggtccccatttttctgcctctgtaccatttacatttgctctctgtttgttaa       c.*2160

          .         .         .         .         .         .       g.50979
 catgaagatcactcttatttcaccatcccaaataacttatctaaatgcacattccttgag       c.*2220

          .         .         .         .         .         .       g.51039
 gacacagggagacaatttaagtcagtagtttttaatatgacttaagtaaaaatcacttgg       c.*2280

          .         .         .         .         .         .       g.51099
 acccatctaagggattgacttttggctggtgggctggcaatcgatttttttttttttttt       c.*2340

          .         .         .         .         .         .       g.51159
 ttttttttgagacggagtctcgctctgtcgcccaggctggagtgcagtggcgcgatctcg       c.*2400

          .         .         .         .         .         .       g.51219
 gcttattgcaagctctgcctcccgggttcatgctattctcctgctgggactaccaggttc       c.*2460

          .         .         .         .         .         .       g.51279
 ctgccaccacgcccagctaatttttttgtatgtcttagtagagacggggtttaaccgtgt       c.*2520

          .         .         .         .         .         .       g.51339
 tagccaggatggtcttgatcccctgacctcgtgatctgcctgcctcagcctcccaaagtg       c.*2580

          .         .         .         .         .         .       g.51399
 ctgggattacaggcgtgagccaccgcacctggctggcaatttataatttttaaaaggtga       c.*2640

          .         .         .         .         .         .       g.51459
 ttctgattaccagccaggcttgcaaatcactggtttgtattgaaataaaagatattttct       c.*2700

          .         .         .         .         .         .       g.51519
 tgtagcagggctaaaatgtgggatgaaacattaaatctactagcctgaaaaaaaactttg       c.*2760

          .         .         .         .         .         .       g.51579
 gcatttgtaatcaaagaagctgaaagttgccttgtgtgtttcctctgaagaatgctggag       c.*2820

          .         .         .         .         .         .       g.51639
 atttgtgatggataatgtttcagaattcaggtgcctatgctttggaccatcaaagaagcc       c.*2880

          .         .         .         .         .         .       g.51699
 attagtctctgtgtaaagaagaagtattcttaatggacagtcccccctaaccttataaat       c.*2940

          .         .         .         .         .         .       g.51759
 tcagctttgcaacagatttcacctcctagcatgaaaattccaaaaactttaacaattact       c.*3000

          .         .         .         .         .         .       g.51819
 cataagtggatcttgagatgacattttcatcttggacagtttgaattctaaatctctagt       c.*3060

          .         .         .         .         .         .       g.51879
 tcacagtgaatcgttttttaaatttttactgatggatcgttatttttcacaaggtactac       c.*3120

          .         .         .         .         .         .       g.51939
 attcttacaatgtaagactagatggaccaaaattttaaaaaaaacttcttgccttgtttt       c.*3180

          .         .         .         .         .         .       g.51999
 tttaattttcatatatattctatttgttgtatatacacattagactattttaaaataaca       c.*3240

          .         .         .         .         .         .       g.52059
 gctggtttttgtaattcattcattcaccctatattcttatattctgctcattattctctc       c.*3300

          .         .         .         .         .         .       g.52119
 atttatagctgtgacattctttggacattacttgcctggcctgattagttacttaatata       c.*3360

          .         .         .         .         .         .       g.52179
 atttattcatttgcttagcatgtgtgacatagttctggaatttcctgttgcagaactcct       c.*3420

          .         .         .         .         .         .       g.52239
 tgctgtattgcagtcatatataaggtaaagtcagtctcttgttcctattaaaaagctacc       c.*3480

          .         .         .         .                           g.52280
 attgattattttccctttttacatgttcaaaaaaaaaaaaa                          c.*3521

 (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 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 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.