atonal homolog 7 (Drosophila) (ATOH7) - coding DNA reference sequence

(used for variant description)

(last modified July 14, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_145178.3 in the ATOH7 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_031934.1, covering ATOH7 transcript NM_145178.3.

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

 (upstream sequence)
                                                   .                g.5016
                                             ctgcactctccgacag       c.-421

 .         .         .         .         .         .                g.5076
 ctactgcgctaaaagcgctccttccctgagcttcgggaaagagttcatcttcctgcaaag       c.-361

 .         .         .         .         .         .                g.5136
 gagtctcaggctttcccagaggacttgaaaggccttcctcgaaccagccacaccaaactc       c.-301

 .         .         .         .         .         .                g.5196
 tgctgcagaaggtttccttctctttttcaacttcatgttgagaaaatgactttctcttga       c.-241

 .         .         .         .         .         .                g.5256
 gcatctcattttcccctaaatttgggcaagtgaagagatatcagcctggtcatccagtag       c.-181

 .         .         .         .         .         .                g.5316
 aacagaaggccgagtcccgcactcccccactgtaaactatttgattgcacgtgagttgct       c.-121

 .         .         .         .         .         .                g.5376
 ttgtttatgacttatttgctcagaagaggcacgttgggaagcggctcgagagaccagccc       c.-61

 .         .         .         .         .         .                g.5436
 acgcgcaggtcctgagcgggcgggcgtgcgaggtcggcgcctcgctgcttggggccgggg       c.-1

          .         .         .         .         .         .       g.5496
 ATGAAGTCCTGCAAGCCCAGCGGCCCGCCGGCGGGAGCGCGCGTTGCACCCCCGTGCGCG       c.60
 M  K  S  C  K  P  S  G  P  P  A  G  A  R  V  A  P  P  C  A         p.20

          .         .         .         .         .         .       g.5556
 GGCGGCACCGAGTGCGCGGGCACGTGCGCCGGGGCCGGGCGGCTGGAGAGCGCGGCGCGC       c.120
 G  G  T  E  C  A  G  T  C  A  G  A  G  R  L  E  S  A  A  R         p.40

          .         .         .         .         .         .       g.5616
 AGGCGCCTGGCGGCCAACGCGCGCGAGCGCCGCCGCATGCAGGGGCTCAACACTGCCTTC       c.180
 R  R  L  A  A  N  A  R  E  R  R  R  M  Q  G  L  N  T  A  F         p.60

          .         .         .         .         .         .       g.5676
 GACCGCTTACGCAGGGTGGTTCCCCAGTGGGGCCAGGATAAAAAGCTGTCCAAGTACGAG       c.240
 D  R  L  R  R  V  V  P  Q  W  G  Q  D  K  K  L  S  K  Y  E         p.80

          .         .         .         .         .         .       g.5736
 ACCCTGCAGATGGCCCTGAGCTACATCATGGCTCTGACCCGGATCCTGGCCGAGGCCGAG       c.300
 T  L  Q  M  A  L  S  Y  I  M  A  L  T  R  I  L  A  E  A  E         p.100

          .         .         .         .         .         .       g.5796
 CGATTCGGCTCGGAGCGGGACTGGGTGGGTCTCCACTGTGAGCACTTCGGCCGCGACCAC       c.360
 R  F  G  S  E  R  D  W  V  G  L  H  C  E  H  F  G  R  D  H         p.120

          .         .         .         .         .         .       g.5856
 TACCTCCCGTTCCCGGGCGCGAAGCTGCCGGGCGAGAGCGAGCTGTACAGCCAGAGACTC       c.420
 Y  L  P  F  P  G  A  K  L  P  G  E  S  E  L  Y  S  Q  R  L         p.140

          .         .         .                                     g.5895
 TTCGGCTTCCAGCCCGAGCCCTTCCAGATGGCCACCTAG                            c.459
 F  G  F  Q  P  E  P  F  Q  M  A  T  X                              p.152

          .         .         .         .         .         .       g.5955
 ggcgcgcgcctccgcgggggtgggtgtccggcagccgctccgagcctcggccctgcccca       c.*60

          .         .         .         .         .         .       g.6015
 agtagcccagaagcctccggcggcccaggattctaaggatgcaatcctcgaggaaaatta       c.*120

          .         .         .         .         .         .       g.6075
 gtcgattctcagattacctttattcgcatcatcagacctatggacgcaatcatttaattg       c.*180

          .         .         .         .         .         .       g.6135
 cctttcttttcccctcctcctttgtattttgtagatttcattaatggatcttgtgaatgg       c.*240

          .         .         .         .         .         .       g.6195
 gttgattgctgtgaaaataatgccccctttccccttttctgggctactttgagggaaaac       c.*300

          .         .         .         .         .         .       g.6255
 aatcttaagaaaaataggattaagctattctgttccagtcctcagagaaataatcacttt       c.*360

          .         .         .         .         .         .       g.6315
 cttaaactttgtgagtttgtcctgttcgggtgaagttacagtatccattacttgtgtttg       c.*420

          .         .         .         .         .         .       g.6375
 ctcacaacagagctaccttcctgttgtgtaaatgcgtttttgctttagtgcattgtgtgt       c.*480

          .         .         .         .         .         .       g.6435
 gcaagcatgaagtagaaacactttttttttctgggtacagtacatgggtatcggtgctct       c.*540

          .         .         .         .         .         .       g.6495
 gtatttttttaaactgtgtacacattattaaaatatacattttataaaatataaataaaa       c.*600

          .         .                                               g.6519
 acgtggatttgtttttcatgccaa                                           c.*624

 (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 Atonal homolog 7 (Drosophila) 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.