chromosome 12 open reading frame 23 (C12orf23) - coding DNA reference sequence

(used for variant description)

(last modified March 13, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_152261.2 in the C12orf23 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering C12orf23 transcript NM_152261.2.

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

 (upstream sequence)
                                                   .                g.5014
                                               ggggcccgggctgc       c.-361

 .         .         .         .         .         .                g.5074
 acgagcgcgcgtgcgcgtcggaactggagccgcgggaggaggcgggagctgaggaggcgg       c.-301

 .         .         .         .         .         .                g.5134
 cggagggggcgggtcgcgtcgggcgccacgtccgcagccagaggcctccgcctccaccac       c.-241

 .         .         .         .         .         .                g.5194
 cgccgccacagtcttccagctccacatcctgagaggacgcctctggagccgcgactgccc       c.-181

 .         .         .         .         .         .                g.5254
 ggggttgtgccggccgccgctgccgcccaggccgcctcagctctcctctgcgccggcccg       c.-121

 .         .         .         .         .      | 02  .             g.6330
 ctcactccgcccggccccagccctagcgctggccgcgaccccggcg | cctttgaaacttct    c.-61

 .         .         .         .         .         .    | 03        g.16351
 gctggtgtgagtgccctcaggggttccccaggaatatcgatacaacaccaacag | gagatc    c.-1

          .         .         .         .         .         .       g.16411
 ATGAATCAGACAGATAAAAATCAACAAGAAATCCCATCATACCTTAATGATGAACCACCA       c.60
 M  N  Q  T  D  K  N  Q  Q  E  I  P  S  Y  L  N  D  E  P  P         p.20

      | 04   .         .         .         .         .         .    g.20395
 GAAG | GTTCAATGAAAGATCACCCACAGCAGCAGCCAGGCATGTTGTCCCGTGTGACTGGG    c.120
 E  G |   S  M  K  D  H  P  Q  Q  Q  P  G  M  L  S  R  V  T  G      p.40

          .         .         .         .         .         .       g.20455
 GGTATCTTCAGTGTTACAAAGGGAGCTGTTGGTGCCACCATTGGTGGTGTGGCTTGGATT       c.180
 G  I  F  S  V  T  K  G  A  V  G  A  T  I  G  G  V  A  W  I         p.60

          .         .         .         .         .         .       g.20515
 GGTGGAAAGAGTCTGGAAGTGACCAAAACAGCTGTTACAACTGTGCCTTCCATGGGAATA       c.240
 G  G  K  S  L  E  V  T  K  T  A  V  T  T  V  P  S  M  G  I         p.80

          .         .         .         .         .         .       g.20575
 GGGCTGGTGAAAGGGGGTGTCTCTGCTGTGGCTGGAGGTGTTACAGCTGTTGGGTCTGCT       c.300
 G  L  V  K  G  G  V  S  A  V  A  G  G  V  T  A  V  G  S  A         p.100

          .         .         .         .         .                 g.20626
 GTTGTAAACAAAGTGCCCTTAACAGGAAAGAAGAAAGACAAATCTGACTGA                c.351
 V  V  N  K  V  P  L  T  G  K  K  K  D  K  S  D  X                  p.116

          .         .         .         .         .         .       g.20686
 aatatagagatacacttgcgctccacagcactgtaatgccagtggcattgaattgctaaa       c.*60

          .         .         .         .         .         .       g.20746
 ttatggactacaaccaagtcaactgttttggacgtttatcttctaaactgctgtgttgaa       c.*120

          .         .         .         .         .         .       g.20806
 agtattgatgactggctttcatctaaaaagaagagaccaatacgagcacagtatatgaag       c.*180

          .         .         .         .         .         .       g.20866
 gtttctcatacttaagttccaggtttttatctggtaaaatgttacacttactcggttgta       c.*240

          .         .         .         .         .         .       g.20926
 actgaagatatggtatgtttgaatatttactataagtctttcagtttgactaaaaatgtg       c.*300

          .         .         .         .         .         .       g.20986
 aaagttgaatttagtagatgatcttcacagttccatatgtataatgtgccaggtaactca       c.*360

          .         .         .         .         .         .       g.21046
 cctgccccttaagaagggaaccttgaattacataagccgtacctttgatgtgcctaatag       c.*420

          .         .         .         .         .         .       g.21106
 tttcagatgtcttagttttttataaccatagttgattaggccaagaggcattcatttctt       c.*480

          .         .         .         .         .         .       g.21166
 atttaagctggcaaaattagcaggaattagagaagtttaaaaagataaatggttttatga       c.*540

          .         .         .         .         .         .       g.21226
 taatgttaaccatcttttgttagtaaatatgcgttctattattttaatcattgatgcctt       c.*600

          .         .         .         .         .         .       g.21286
 acaaaagaaaacatcttttctaataccctgaatatgtgctgttcttagaatcatctatgg       c.*660

          .         .         .         .         .         .       g.21346
 attcttttaaaggttgtttgtgaaattagttttccctttttagaatctcaggagtagtgg       c.*720

          .         .         .         .         .         .       g.21406
 ggtaaagacatttcctgctgtcagtggataagacagagcttgttaactgttttggcagta       c.*780

          .         .         .         .         .         .       g.21466
 gttaaaatcaaattgtacacttctcagcctgggttcatgcttcatcattaatacacctca       c.*840

          .         .         .         .         .         .       g.21526
 cagtgcctaaggaacatttacttactggtcagaaggtattttggaagagtttcatattaa       c.*900

          .         .         .         .         .         .       g.21586
 ggaggaacaaataataattttaagttcttaaaaattacctaaaacaccccaaatataaaa       c.*960

          .         .         .         .         .         .       g.21646
 agaagccttcacacctattctgtctttaggatgtcttaaattattagcagtactcctttt       c.*1020

          .         .         .         .         .         .       g.21706
 ttaaaaacactgtaaaagtaaccacaaatatgtgaggacttactattttaaatggaatgg       c.*1080

          .         .         .         .         .         .       g.21766
 aatgagctccatagattagttttgaatataaagtatataaaagtgcatcagtggtttata       c.*1140

          .         .         .         .         .         .       g.21826
 taggctttaaaaacatgttatcttacagtcctttaaagcagccatagagtttgtatcatt       c.*1200

          .         .         .         .         .         .       g.21886
 tttcaagccaatttcagtcagggatttgaattgtttgattatggatgataaatgtgtcat       c.*1260

          .         .         .         .         .         .       g.21946
 atcttattaatatgtctcatgtctcgttccttcttaatatgatttagctggaattcattt       c.*1320

          .         .         .         .         .         .       g.22006
 tcttttcgtttcatgtttaatttcataaaacgtttaacaattggcatatatacttggcat       c.*1380

          .         .         .         .         .         .       g.22066
 tcctgtccaccaaggattgtaatccaagcctgggaaaatcttaaatttctttttacttaa       c.*1440

          .         .         .         .         .         .       g.22126
 atctggaaatttgtctccattctgccacctttttttttttttttttttatagtggagggg       c.*1500

          .         .         .         .         .         .       g.22186
 aggaaaggggggtgataccttgcagtaagtaagtcgaaatagcatgcctgaaaatttgaa       c.*1560

          .         .         .         .         .         .       g.22246
 acagaccattctaacacccaaggcttgtttataaaatacttgagaattacattaatgtgg       c.*1620

          .         .         .         .         .         .       g.22306
 aatcaacagatgcagaagaatataacataacttttaaaagctttcataaataccagcagc       c.*1680

          .         .         .         .         .         .       g.22366
 aattgtaagcaaatctacaaaggttcttgaacctttctattatatacaaaactgaaaagt       c.*1740

          .         .         .         .         .         .       g.22426
 cattaaggagttcaactaatcaggaattaaatggtcatttatttcatgcagtatgattta       c.*1800

          .         .         .         .         .         .       g.22486
 aggtatttcttgagattctggtcaaatgtcataatcagcaaacgggattaaaaaaaaaac       c.*1860

          .         .         .         .         .         .       g.22546
 tccaaaatcactaaataattatctaaataatggtattggagaacttgtttcctgctattt       c.*1920

          .         .         .         .         .         .       g.22606
 ggaagagattgttgcttcattgctagtttgtatttctaacttctacagttatagactcca       c.*1980

          .         .         .         .         .         .       g.22666
 ctgtgctttgtgtctgaatttctcagtatagacattttgtttactgtatgcttgcatatt       c.*2040

          .         .         .         .         .         .       g.22726
 tattttcaactttgtttgtctttaaaattgcttgaggaaaaatggttgtaattaatttct       c.*2100

          .         .         .         .         .         .       g.22786
 gctacagaaaagccacctggtacgttttgtctcatcaggattgttttaaattctaaacta       c.*2160

          .         .         .         .         .         .       g.22846
 taagtttgttcagaggggcttttgcaatgatagcagaaaactgtacaaatgtacagttag       c.*2220

          .         .         .         .         .         .       g.22906
 ttatagaggttcttgttgaaatgaacttaccatctgatgatatgtatgtacagctgtgta       c.*2280

          .         .         .         .         .         .       g.22966
 cttgagtcttttttagtttacttagaaagactagcagtttgacctgttaaacaggactag       c.*2340

          .         .         .         .         .         .       g.23026
 ttcaagtcaagaaactaaggttgttgtatacacctggaggcatctgttattcagcttatc       c.*2400

          .         .         .         .         .         .       g.23086
 ctttgagtgggtatttggcacaatgaggataaacttatgtgacccacttgaatggctgat       c.*2460

          .         .         .         .         .         .       g.23146
 ctaataatgttgacattatgcattctgtacttagtgaaatgtcagatgaaaataactgat       c.*2520

          .         .         .         .         .         .       g.23206
 gaataatttttttgtattaaagggatgggaaaagaacacatgaatttgttaataaagcac       c.*2580

          .         .         .         .         .         .       g.23266
 tatgatctgcaaacgatggaatgtttcataaagatctaaagaaataaaggaaactttaaa       c.*2640

                                                                    g.23270
 acag                                                               c.*2644

 (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 Chromosome 12 open reading frame 23 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.