autophagy related 12 (ATG12) - coding DNA reference sequence

(used for variant description)

(last modified May 12, 2026)

This file was created to facilitate the description of sequence variants on transcript NM_004707.3 in the ATG12 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering ATG12 transcript NM_004707.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5059
  ggaaacatttctaggtccgagccagcggcctaactggagtgtgcgcattcgaccgagca       c.-241

 .         .         .         .         .         .                g.5119
 cagacacgttgcccaccgctcctctcccgaggtctgtagtcgcggagaaacacatgttgc       c.-181

 .         .         .         .         .         .                g.5179
 gttactaacgttcagaggtctgcgacagcttcgatttgaatgactagccgggaacaccaa       c.-121

 .         .         .         .         .         .                g.5239
 gtttcactgtgtaattgcgtccccctactccggcgcctcctttgcgacgctccctggaga       c.-61

 .         .         .         .         .         .                g.5299
 aaagcacgcccactgcacgcgctcagtcgctacttccgctctcgagtgtctccaagcaag       c.-1

          .         .         .         .         .         .       g.5359
 ATGGCGGAGGAGCCGCAGTCTGTGTTGCAGCTTCCTACTTCAATTGCTGCTGGAGGGGAA       c.60
 M  A  E  E  P  Q  S  V  L  Q  L  P  T  S  I  A  A  G  G  E         p.20

          .         .         .         .         .         .       g.5419
 GGACTTACGGATGTCTCCCCAGAAACAACCACCCCGGAGCCCCCGTCTTCCGCTGCAGTT       c.120
 G  L  T  D  V  S  P  E  T  T  T  P  E  P  P  S  S  A  A  V         p.40

          .         .         .         .    | 02    .         .    g.9104
 TCCCCGGGAACAGAGGAACCTGCTGGCGACACCAAGAAAAAAA | TTGACATTTTGCTAAAG    c.180
 S  P  G  T  E  E  P  A  G  D  T  K  K  K  I |   D  I  L  L  K      p.60

          .         .         .         .         .         .       g.9164
 GCTGTGGGAGACACTCCTATTATGAAAACAAAGAAGTGGGCAGTAGAGCGAACACGAACC       c.240
 A  V  G  D  T  P  I  M  K  T  K  K  W  A  V  E  R  T  R  T         p.80

          .         .         .         .         .         .       g.9224
 ATCCAAGGACTCATTGACTTCATCAAAAAGTTTCTTAAACTTGTGGCCTCAGAACAGTTG       c.300
 I  Q  G  L  I  D  F  I  K  K  F  L  K  L  V  A  S  E  Q  L         p.100

  | 03       .         .         .         .         .         .    g.14247
  | TTTATTTATGTGAATCAGTCCTTTGCTCCTTCCCCAGACCAAGAAGTTGGAACTCTCTAT    c.360
  | F  I  Y  V  N  Q  S  F  A  P  S  P  D  Q  E  V  G  T  L  Y      p.120

     | 04    .         .         .         .         .         .    g.15045
 GAG | TGTTTTGGCAGTGATGGTAAACTGGTTTTACATTACTGCAAGTCTCAGGCGTGGGGA    c.420
 E   | C  F  G  S  D  G  K  L  V  L  H  Y  C  K  S  Q  A  W  G      p.140

                                                                    g.15048
 TGA                                                                c.423
 X                                                                  p.140

          .         .         .         .         .         .       g.15108
 accacaaagaaaatcaacttgctactacatgaaatggattttcacggaagagacagctct       c.*60

          .         .         .         .         .         .       g.15168
 gaaaagttttgatgcttgtggcaagagacttaacagatgtgatctatttagtatgtgtct       c.*120

          .         .         .         .         .         .       g.15228
 actctatgtttatgcataagaaaacatccatagcatgaatggactcagaaaaatgtgatt       c.*180

          .         .         .         .         .         .       g.15288
 tgtattaatgcaccagtcatcataaaagatggtcatgatagtacacccattgctcctact       c.*240

          .         .         .         .         .         .       g.15348
 tgttactattattgctgcagatctgcctccaaggttgaaaaggagactaagactgtataa       c.*300

          .         .         .         .         .         .       g.15408
 acatcttcattgtcagttctcaaaatgactgaaattgttttcatggtaaaagttaatata       c.*360

          .         .         .         .         .         .       g.15468
 ctaaagggttcctttttttttaatgtttacatttatctctatgtttacctttttagtcac       c.*420

          .         .         .         .         .         .       g.15528
 attgacctgctggctgaatacctcaaatagtccagtagagggcagtccaccaggcagaaa       c.*480

          .         .         .         .         .         .       g.15588
 aggttaggcgttttggtttcacatctttgctggggaataataggggaaatggctgttttt       c.*540

          .         .         .         .         .         .       g.15648
 gctaatttttagctaatatctagccaggagagcaagcacataggacagactgaaagactg       c.*600

          .         .         .         .         .         .       g.15708
 taattttacacaatacacatggcttaattattttattgggatacagaaaaatataaattc       c.*660

          .         .         .         .         .         .       g.15768
 tggacaaataagtcatatacctgttttcagtcctaacatttaaggattcttgagtcccaa       c.*720

          .         .         .         .         .         .       g.15828
 tcacataactgtggtgttactctgtcatttatatggtgtcaaaagcacttgatgagtaaa       c.*780

          .         .         .         .         .         .       g.15888
 cccagtagcatctttttgagtgtttcataatgcattttccaacttgaaaacaataattga       c.*840

          .         .         .         .         .         .       g.15948
 aaaatagccttattgtatattttatgccatgactaaaagtgccatttttactgatgctat       c.*900

          .         .         .         .         .         .       g.16008
 tagactgataatttcttgaagtgaaatttaacctttttttctctttagtattatgtttat       c.*960

          .         .         .         .         .         .       g.16068
 aatgccatatttttagaaagcattccagatcaggcatggtggcttacacctgtaatccca       c.*1020

          .         .         .         .         .         .       g.16128
 gcactttggaaggctgaggtgtggggattgcgtgaagccacaagtttgagaccagcctgg       c.*1080

          .         .         .         .         .         .       g.16188
 ttagcaaggcaagatccccaactctacaaaaaaataaaaattaaaaaaaaattattaggc       c.*1140

          .         .         .         .         .         .       g.16248
 tgcagaggcaagaggatcccctgagcccagaagttcaagggtatagtgagtcgtgattgt       c.*1200

          .         .         .         .         .         .       g.16308
 accactgcattcctgctgagcaacagagtgagaccccatctcaaaaaagaaaaaaaaagg       c.*1260

          .         .         .         .         .         .       g.16368
 cattctagtaaatcgaatgtaatgtgaatggaatttcaaaacaggatctaagatggtatg       c.*1320

          .         .         .         .         .         .       g.16428
 tagtagaattcaaagtaatatcattttaaagttaaatgagtatggaaaaggtctgttctc       c.*1380

          .         .         .         .         .         .       g.16488
 tagttttgtccagttcagtttactgaaggaatatatttaattatattcatatatttaaca       c.*1440

          .         .         .         .         .         .       g.16548
 aataaaaatatgttgaattttcgtattgtttgccactgagggttcagatgatagacctca       c.*1500

          .         .         .         .         .         .       g.16608
 aaaaatcgaaaatactggttgaaatttgtagcatccatttagttattctttttgacctaa       c.*1560

          .         .         .         .         .         .       g.16668
 ataacttaatagtttattaaatctaaggttagctaaatatgtagctaaccttatttgttt       c.*1620

          .         .         .         .         .         .       g.16728
 tctttcctaacaactctgaagaatacataggactttgcactttttttttttttttttttt       c.*1680

          .         .         .         .         .         .       g.16788
 tttaaagagacagcgtttcggtcttgttgcccaggctggactgtaatggcacaatcttgg       c.*1740

          .         .         .         .         .         .       g.16848
 ctcattgcaacctctacctcccgggttcaagtgattctcctgcctcagcctcctgagtag       c.*1800

          .         .         .         .         .         .       g.16908
 ctgggattacaggcacctgccaccacacccgcctaattttttgttatttttagtggagac       c.*1860

          .         .         .         .         .         .       g.16968
 agggttttaccattttggccaggctggtctcaaactcctgactgacctcaggtgatccac       c.*1920

          .         .         .         .         .         .       g.17028
 ccgccttggcctcccaaagtgctgggattataggtgtgagccaccgtgccgggcctggac       c.*1980

          .         .         .         .         .         .       g.17088
 tttgtactttttcaaatcatatttaattatttcttgatctttactcaaagaattattctg       c.*2040

          .         .         .         .         .         .       g.17148
 cgctaaatttgcaacattaaacaataattaagcctggatccgataagttattgggtgact       c.*2100

          .         .         .         .         .         .       g.17208
 agaacctacaacacaatttatttttaatttaaactctcaagtctgattaaacttggggga       c.*2160

          .         .         .         .         .         .       g.17268
 aaaactgaacattcaggtgatattttaaattttctttgtgactaaatagatgtcattaat       c.*2220

          .         .         .         .         .         .       g.17328
 atcatgcttcatcttactgtgcatagatgacccatggcacacaaagtatatgtataatat       c.*2280

          .         .         .         .         .         .       g.17388
 tgcaatattgtacttccatctttaaaagtatgccaaagacttcataatgaattcaccata       c.*2340

          .         .         .         .         .         .       g.17448
 tttaaggaataaggcaaattaatgtttatccgaaatcaaaatgagattggataattcctg       c.*2400

          .         .         .         .         .         .       g.17508
 gaatctgatttctgtaagtttcagtcctaaagggaccttaaatatctactagaacgaagt       c.*2460

          .         .         .         .         .         .       g.17568
 acagtgtatttctcagattacatgacattagtcaaccaatttagttgtaacacaaagtga       c.*2520

          .         .         .         .         .         .       g.17628
 gaaagccttaggtgttgaaggagtgtgaaaataaaaatctcttttcatgcagtttctgct       c.*2580

          .         .         .         .         .         .       g.17688
 tcattttccaaggattataatatgctgagtaaacttttggcactaaggaagccagctaca       c.*2640

          .         .         .         .         .         .       g.17748
 ggccacgtaatgaaaactattcagaaaacagttcagcaaatactactatttgaatacagt       c.*2700

          .         .         .         .         .         .       g.17808
 tcaaatcgtatttatataaatactctgcctacattatttaacccaaactggattattcac       c.*2760

          .         .         .         .         .         .       g.17868
 cattctttgaagatgccttgtgttttctgttatctacttctgctcgtgcagtttacttac       c.*2820

          .         .         .         .         .         .       g.17928
 accttcaccctttcaaatcctaactcttcttcaaggcctgattcagattttaacttttta       c.*2880

          .         .         .         .         .         .       g.17988
 aaggctatctgaatcattcaaggagaagataccctttctctcataaaaacacttagagca       c.*2940

          .         .         .         .         .         .       g.18048
 aactaccactattaaatcacttattgcatactgcctcagagccatgtgtccagttattct       c.*3000

          .         .         .         .         .         .       g.18108
 ggtttttatctggtacccacacacacataatacttagtacatttccttatatgtaaataa       c.*3060

          .         .         .         .         .         .       g.18168
 ttagtaatgtaacacatcgagtgaatgaaattgtgattagcaaagtatgacagctaaaaa       c.*3120

          .         .         .         .         .         .       g.18228
 caaaggaaattttgtatagtttaagtttttgtacagcagaaggtaatggaaaatatttgc       c.*3180

          .         .         .         .         .         .       g.18288
 aacatatgacagtgtttttaatgtcttaagtatatgaagaatttgtttcaattggtaaga       c.*3240

          .         .         .         .         .         .       g.18348
 aaagaccaactgaaaaataggcaaaacataccaaatttcgattcacaaaaagatacaaat       c.*3300

          .         .         .         .         .         .       g.18408
 ggccaacaaaacatgaaacaccttgaaccccattggttacaaaaaatacaaataaaaaca       c.*3360

          .         .         .         .         .         .       g.18468
 atgctgactgacaataaaaataatgtacatcttgctattagcagagttgtggggaaatcc       c.*3420

          .         .         .         .         .         .       g.18528
 tgtcatattttggtgaatagaatatgagttggtatatcacttttagggggccatttggca       c.*3480

          .         .         .         .         .         .       g.18588
 atatcaaaaaccttgaaacgtaagtataaacttcagtttgttcgtataacctgtcattca       c.*3540

          .         .         .         .         .         .       g.18648
 catattgagtgcctactatgtcctaaatattggaataacactaataaagctcataagaga       c.*3600

                                                                    g.18656
 ctaataaa                                                           c.*3608

 (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 Autophagy related 12 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.