gap junction protein, alpha 3, 46kDa (GJA3) - coding DNA reference sequence

(used for variant description)

(last modified November 20, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_021954.3 in the GJA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016399.1, covering GJA3 transcript NM_021954.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5052
         gggctgcagggatggcgatcagggcggggaggtcgggccctggcgcggggcg       c.-121

 .         .         .         .         .         .                g.5112
 cacgcgtgaagcagcaccgcacgtgtgaaaggaattcttttcagagcggccgggagccct       c.-61

 .         .         .         .         .   | 02     .             g.22756
 gctccggaggaacgcacccgggtcgccgccgcggcagagcggg | gttaggaatctgaagca    c.-1

          .         .         .         .         .         .       g.22816
 ATGGGCGACTGGAGCTTTCTGGGAAGACTCTTAGAAAATGCACAGGAGCACTCCACGGTC       c.60
 M  G  D  W  S  F  L  G  R  L  L  E  N  A  Q  E  H  S  T  V         p.20

          .         .         .         .         .         .       g.22876
 ATCGGCAAGGTTTGGCTGACCGTGCTGTTCATCTTCCGCATCTTGGTGCTGGGGGCCGCG       c.120
 I  G  K  V  W  L  T  V  L  F  I  F  R  I  L  V  L  G  A  A         p.40

          .         .         .         .         .         .       g.22936
 GCGGAGGACGTGTGGGGCGATGAGCAGTCAGACTTCACCTGCAACACCCAGCAGCCGGGC       c.180
 A  E  D  V  W  G  D  E  Q  S  D  F  T  C  N  T  Q  Q  P  G         p.60

          .         .         .         .         .         .       g.22996
 TGCGAGAACGTCTGCTACGACAGGGCCTTCCCCATCTCCCACATCCGCTTCTGGGCGCTG       c.240
 C  E  N  V  C  Y  D  R  A  F  P  I  S  H  I  R  F  W  A  L         p.80

          .         .         .         .         .         .       g.23056
 CAGATCATCTTCGTGTCCACGCCCACCCTCATCTACCTGGGCCACGTGCTGCACATCGTG       c.300
 Q  I  I  F  V  S  T  P  T  L  I  Y  L  G  H  V  L  H  I  V         p.100

          .         .         .         .         .         .       g.23116
 CGCATGGAAGAGAAGAAGAAAGAGAGGGAGGAGGAGGAGCAGCTGAAGAGAGAGAGCCCC       c.360
 R  M  E  E  K  K  K  E  R  E  E  E  E  Q  L  K  R  E  S  P         p.120

          .         .         .         .         .         .       g.23176
 AGCCCCAAGGAGCCACCGCAGGACAATCCCTCGTCGCGGGACGACCGCGGCAGGGTGCGC       c.420
 S  P  K  E  P  P  Q  D  N  P  S  S  R  D  D  R  G  R  V  R         p.140

          .         .         .         .         .         .       g.23236
 ATGGCCGGGGCGCTGCTGCGGACCTACGTCTTCAACATCATCTTCAAGACGCTGTTCGAG       c.480
 M  A  G  A  L  L  R  T  Y  V  F  N  I  I  F  K  T  L  F  E         p.160

          .         .         .         .         .         .       g.23296
 GTGGGCTTCATCGCCGGCCAGTACTTTCTGTACGGCTTCGAGCTGAAGCCGCTCTACCGC       c.540
 V  G  F  I  A  G  Q  Y  F  L  Y  G  F  E  L  K  P  L  Y  R         p.180

          .         .         .         .         .         .       g.23356
 TGCGACCGCTGGCCCTGCCCCAACACGGTGGACTGCTTCATCTCCAGGCCCACGGAGAAG       c.600
 C  D  R  W  P  C  P  N  T  V  D  C  F  I  S  R  P  T  E  K         p.200

          .         .         .         .         .         .       g.23416
 ACCATCTTCATCATCTTCATGCTGGCGGTGGCCTGCGCGTCCCTGCTGCTCAACATGCTG       c.660
 T  I  F  I  I  F  M  L  A  V  A  C  A  S  L  L  L  N  M  L         p.220

          .         .         .         .         .         .       g.23476
 GAGATCTACCACCTGGGCTGGAAGAAGCTCAAGCAGGGCGTGACCAGCCGCCTCGGCCCG       c.720
 E  I  Y  H  L  G  W  K  K  L  K  Q  G  V  T  S  R  L  G  P         p.240

          .         .         .         .         .         .       g.23536
 GACGCCTCCGAGGCCCCGCTGGGGACAGCCGATCCCCCGCCCCTGCCCCCCAGCTCCCGG       c.780
 D  A  S  E  A  P  L  G  T  A  D  P  P  P  L  P  P  S  S  R         p.260

          .         .         .         .         .         .       g.23596
 CCGCCCGCCGTTGCCATCGGGTTCCCACCCTACTATGCGCACACCGCTGCGCCCCTGGGA       c.840
 P  P  A  V  A  I  G  F  P  P  Y  Y  A  H  T  A  A  P  L  G         p.280

          .         .         .         .         .         .       g.23656
 CAGGCCCGCGCCGTGGGCTACCCCGGGGCCCCGCCACCAGCCGCGGACTTCAAACTGCTA       c.900
 Q  A  R  A  V  G  Y  P  G  A  P  P  P  A  A  D  F  K  L  L         p.300

          .         .         .         .         .         .       g.23716
 GCCCTGACCGAGGCGCGCGGAAAGGGCCAGTCCGCCAAGCTCTACAACGGCCACCACCAC       c.960
 A  L  T  E  A  R  G  K  G  Q  S  A  K  L  Y  N  G  H  H  H         p.320

          .         .         .         .         .         .       g.23776
 CTGCTGATGACTGAGCAGAACTGGGCCAACCAGGCGGCCGAGCGGCAGCCCCCGGCGCTC       c.1020
 L  L  M  T  E  Q  N  W  A  N  Q  A  A  E  R  Q  P  P  A  L         p.340

          .         .         .         .         .         .       g.23836
 AAGGCTTACCCGGCAGCGTCCACGCCTGCAGCCCCCAGCCCCGTCGGCAGCAGCTCCCCG       c.1080
 K  A  Y  P  A  A  S  T  P  A  A  P  S  P  V  G  S  S  S  P         p.360

          .         .         .         .         .         .       g.23896
 CCACTCGCGCACGAGGCTGAGGCGGGCGCGGCGCCCCTGCTGCTGGATGGGAGCGGCAGC       c.1140
 P  L  A  H  E  A  E  A  G  A  A  P  L  L  L  D  G  S  G  S         p.380

          .         .         .         .         .         .       g.23956
 AGTCTGGAGGGGAGCGCCCTGGCAGGGACCCCCGAGGAGGAGGAGCAGGCCGTGACCACC       c.1200
 S  L  E  G  S  A  L  A  G  T  P  E  E  E  E  Q  A  V  T  T         p.400

          .         .         .         .         .         .       g.24016
 GCGGCCCAGATGCACCAGCCGCCCTTGCCCCTCGGAGACCCAGGTCGGGCCAGCAAGGCC       c.1260
 A  A  Q  M  H  Q  P  P  L  P  L  G  D  P  G  R  A  S  K  A         p.420

          .         .         .         .                           g.24064
 AGCAGGGCCAGCAGCGGGCGGGCCAGACCGGAGGACTTGGCCATCTAG                   c.1308
 S  R  A  S  S  G  R  A  R  P  E  D  L  A  I  X                     p.435

          .         .         .         .         .         .       g.24124
 tgcccgggtgcctgcctccagacagctgtgtagtgatctttttcttagaaaccaaaacca       c.*60

          .         .         .         .         .         .       g.24184
 aagtgcacttcccaccagcagatagaacctgaaagtcccaggaggtgggagcgactggag       c.*120

          .         .         .         .         .         .       g.24244
 tcccaggaggtggacgatggaggagagatcaggtttccgtgttcaatgcttgctgttctt       c.*180

          .         .         .         .         .         .       g.24304
 agcactgtgagttacagtggggataactcccactttctgagtttgggggtggcggggaca       c.*240

          .         .         .         .         .         .       g.24364
 agggttgtgggcctttaagatcttcacagcagcccagaaatctggtcgctgagggctgtc       c.*300

          .         .         .         .         .         .       g.24424
 tctgggggtaactgttctgtagtggtaaagcaacaggtatcctgcagtccctttagctcc       c.*360

          .         .         .         .         .         .       g.24484
 tgggcaattgggtttgctattcctaagctctccagagcctctgggcggcccagagggtct       c.*420

          .         .         .         .         .         .       g.24544
 tagctctgggccagagcacttagctctatctctttgatacttttaacttagagttgaatt       c.*480

          .         .         .         .         .         .       g.24604
 tcatttgggatatttgccaaactgcactaaaaaaagatttacagcaagtctatgtagtgt       c.*540

          .         .         .         .         .         .       g.24664
 catttgagtttccgaaattgcatgtgaagcccaggatatcaagcttcaggcctcatgaca       c.*600

          .         .         .         .         .         .       g.24724
 agtgacaaagagcagttgccctccagaggcaggctcagtgggcaagggccccagaggttg       c.*660

          .         .         .         .         .         .       g.24784
 ctggcagaaggcaggtggaaacgcagccacgcctgaggccatttttaaacagttgaggaa       c.*720

          .         .         .         .         .         .       g.24844
 attgacataaaagtgtgtcgggtatgccgtaggtatttattttctaaatgattattttgt       c.*780

          .         .         .         .         .         .       g.24904
 gctttgaatggtgcagctatgcctattttctcccactttctttcaggaaaaatgaaagaa       c.*840

          .         .         .         .         .         .       g.24964
 aaatagtgtttttctttctttaaatactgttagaatgattgctgaccaagacagtgctaa       c.*900

          .         .         .         .         .         .       g.25024
 tttgccctaatgcatgctactagcatctttactaaagattttgaactttcttgtaaaaga       c.*960

          .         .         .         .         .         .       g.25084
 aattctttaatttcatgagtcacctaattataatgagaatgtattatataaaacaaaagc       c.*1020

          .         .         .         .         .         .       g.25144
 aggggaaagttttaagtgcattcaaatagaagttctgaagattttgaatgggaagtgaaa       c.*1080

          .         .         .         .         .         .       g.25204
 agtgaactactgttgccaggaaaattatttatacagatgaatctatgacaatctacactt       c.*1140

          .         .         .         .         .         .       g.25264
 ttaaaaagtacagaataaaacacttcaagcttcctaatcattctttgtgggcagcctgtt       c.*1200

          .         .         .         .         .         .       g.25324
 tgctttctccagtgtaaataatataagtgtctggggatccctgcctgggggagggcgcgt       c.*1260

          .         .         .         .         .         .       g.25384
 gctcatgcaggctgtatgccccattctgcctccacaccagagctgtcctgacagggaagg       c.*1320

          .         .         .         .         .         .       g.25444
 ctatttatgtgtgtgggcatggctggaagacggcagaattttctgtcctgcacacacagc       c.*1380

          .         .         .         .         .         .       g.25504
 tgtagtatcttggtcaccatttgtttataaaatgaacgatggtcatgttgagcctgtttc       c.*1440

          .         .         .         .         .         .       g.25564
 tactcacacttttcacctccaacttctactgagtatcattagcccttgttcagcgagacc       c.*1500

          .         .         .         .         .         .       g.25624
 aatgtaatacatttctttttataaattaacttctcgatgatgcatttgggaccacactcc       c.*1560

          .         .         .         .         .         .       g.25684
 aaacatactttctgttttctatcataaagggtgctccactaacaatctgatgaaaggaat       c.*1620

          .         .         .         .         .         .       g.25744
 gcaatttccaagtctcagattcttgcatgcaactagtttttcatgtcagtcaaacacaaa       c.*1680

          .         .         .         .         .         .       g.25804
 gaatttgttagtacattctgcttgctgtaggatgcactggacaggctcctaggcttgaaa       c.*1740

          .         .         .         .         .         .       g.25864
 aatgctaacttttccatacgtctcctcagagactttctcaaccagattgacaagagagaa       c.*1800

          .         .         .         .         .         .       g.25924
 attagccctttggaaaactgtgagtgactttctcactcctctccaggctggtgcataact       c.*1860

          .         .         .         .         .         .       g.25984
 acagccattctagatgcataacttctctccgaagttcactcattacatgcagtgtatgcc       c.*1920

          .         .         .         .         .         .       g.26044
 ataggcctagggcagcaggacttagttcttgtgagtgataagggctgctagaagatccta       c.*1980

          .         .         .         .         .         .       g.26104
 gtgtgagaagcattccgataaaaagctttggccattttagaaaatgcaatagcaatcatc       c.*2040

          .         .         .         .         .         .       g.26164
 caagagcacaagtacagctcaagtacaagtggatgtcaatacttggttctttaagttcta       c.*2100

          .         .         .         .         .         .       g.26224
 ccataataaatgttcataacagtaacaagcttcttatttacccacaatttgattttgagt       c.*2160

          .         .         .         .         .         .       g.26284
 ggggttggagatgagcatgagaactcaaattgtatctagtttttacattttaaaattgaa       c.*2220

          .         .         .         .         .         .       g.26344
 tttagtcacaatatgtttatggaaatgccagtattgtaccattgaccatagtctagtggg       c.*2280

          .         .         .         .         .         .       g.26404
 tccatttagagtggataggagtgtagaattagattcacctacttgaaaatcactaatcta       c.*2340

          .         .         .         .         .         .       g.26464
 taaagaagtgaggttttgcaatagaacagtgcctgtggtgttttttcaggttagcatact       c.*2400

          .         .         .         .         .         .       g.26524
 gatttcagttcatgtaagaaatgaacgcatgtttcacatccttttgctctttgaggtatc       c.*2460

          .         .         .         .         .         .       g.26584
 catgattctaaaggctgggtccttctctctcaggcagtgtggaattgttctctactcaac       c.*2520

          .         .         .         .         .         .       g.26644
 tagtcctttaagacattgaaacatgcaataaaaatagaaattgcctctctctgtgggcaa       c.*2580

          .         .         .         .         .         .       g.26704
 gattccagacctatttttttctagcctggaaatttcactgaaactattttgttcttgatt       c.*2640

          .         .         .         .         .         .       g.26764
 cattagaaagttttaaaaaatctctaagcctattttaaaactcaaatgctatacctatag       c.*2700

          .         .         .         .         .         .       g.26824
 catttgagtattatatttacatacatggtttttaagctgctgtatacaattacttcttat       c.*2760

          .         .         .         .         .         .       g.26884
 atccctgtttttataaaatgttaaacatcactatagttacagtaccaaaaatcatttttt       c.*2820

          .         .         .         .         .         .       g.26944
 aaattctaaaactattacttatattatcactcactttctcctttttaaacttttaatggt       c.*2880

          .         .         .         .         .         .       g.27004
 tattcttgtattttttaataaaattgacacgaataaatccttaaatttacaaaagaaaaa       c.*2940

          .         .         .         .         .         .       g.27064
 tagcaagccagcatctttctcatttatcctggatttcttcggctctggacaagtaagtgg       c.*3000

          .         .         .         .         .         .       g.27124
 ataggtcatagaattcctacacaagaatacctggactaataactatgaatataatttaaa       c.*3060

          .         .         .         .         .         .       g.27184
 catcactttacaaaaaattaatccaatagggtttaggtctcctttcacgttaggcttttt       c.*3120

          .         .         .         .         .         .       g.27244
 aaaaagtattattaacactttctttattttgtattactgaataaactccttttttctgaa       c.*3180

          .         .         .         .         .         .       g.27304
 ttttttgaacttctgatatttgtaacactaattcatgaatctccaccaaaataaatactt       c.*3240

          .         .         .         .         .         .       g.27364
 atagagagtattgcatgatttaagagagtaaatgtgttttccaaagatgaatagagtcct       c.*3300

          .         .         .         .         .         .       g.27424
 gccaccatcaccacccgccacccctacaaattgaggatatcctaaataacctttaatata       c.*3360

          .         .         .         .         .         .       g.27484
 gcatatggacattgtacatttaaggtcagggaaggcacttttcttcctaattttatatta       c.*3420

          .         .         .         .         .         .       g.27544
 cagtgcaaatcttgggttgactcactttaaggtttctgactgcccaaaatattttttccc       c.*3480

          .         .         .         .         .         .       g.27604
 ctttacgttacagaacattataataaggcaaacaagttagggatttgaataacactcaaa       c.*3540

          .         .         .         .         .         .       g.27664
 gcaacaaactgtttccagaaagtaccatatttgaagctgtttggtgtgtaaatgttcatt       c.*3600

          .         .         .         .         .         .       g.27724
 tagctcatgtatttacaaaactcttactaaaacttaatttttgtgccataacagtgtctt       c.*3660

          .         .         .         .         .         .       g.27784
 tcctggattacattgtaactggaagtaagcattttctaaaataataaaagtgcccttaag       c.*3720

                                                                    g.27790
 tttaaa                                                             c.*3726

 (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 Gap junction protein, alpha 3, 46kDa 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.