hemoglobin, gamma A (HBG1) - coding DNA reference sequence

(used for variant description)

(last modified May 24, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000559.2 in the HBG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_000007.3, covering HBG1 transcript NM_000559.2.

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

 (upstream sequence)
           .         .         .         .         .                g.47811
        acactcgcttctggaacgtctgaggttatcaataagctcctagtccagacgcc       c.-1

          .         .         .         .         .         .       g.47871
 ATGGGTCATTTCACAGAGGAGGACAAGGCTACTATCACAAGCCTGTGGGGCAAGGTGAAT       c.60
 M  G  H  F  T  E  E  D  K  A  T  I  T  S  L  W  G  K  V  N         p.20

          .         .         .   | 02     .         .         .    g.48053
 GTGGAAGATGCTGGAGGAGAAACCCTGGGAAG | GCTCCTGGTTGTCTACCCATGGACCCAG    c.120
 V  E  D  A  G  G  E  T  L  G  R  |  L  L  V  V  Y  P  W  T  Q      p.40

          .         .         .         .         .         .       g.48113
 AGGTTCTTTGACAGCTTTGGCAACCTGTCCTCTGCCTCTGCCATCATGGGCAACCCCAAA       c.180
 R  F  F  D  S  F  G  N  L  S  S  A  S  A  I  M  G  N  P  K         p.60

          .         .         .         .         .         .       g.48173
 GTCAAGGCACATGGCAAGAAGGTGCTGACTTCCTTGGGAGATGCCACAAAGCACCTGGAT       c.240
 V  K  A  H  G  K  K  V  L  T  S  L  G  D  A  T  K  H  L  D         p.80

          .         .         .         .         .         .       g.48233
 GATCTCAAGGGCACCTTTGCCCAGCTGAGTGAACTGCACTGTGACAAGCTGCATGTGGAT       c.300
 D  L  K  G  T  F  A  Q  L  S  E  L  H  C  D  K  L  H  V  D         p.100

          .      | 03  .         .         .         .         .    g.49173
 CCTGAGAACTTCAAG | CTCCTGGGAAATGTGCTGGTGACCGTTTTGGCAATCCATTTCGGC    c.360
 P  E  N  F  K   | L  L  G  N  V  L  V  T  V  L  A  I  H  F  G      p.120

          .         .         .         .         .         .       g.49233
 AAAGAATTCACCCCTGAGGTGCAGGCTTCCTGGCAGAAGATGGTGACTGCAGTGGCCAGT       c.420
 K  E  F  T  P  E  V  Q  A  S  W  Q  K  M  V  T  A  V  A  S         p.140

          .         .                                               g.49257
 GCCCTGTCCTCCAGATACCACTGA                                           c.444
 A  L  S  S  R  Y  H  X                                             p.147

          .         .         .         .         .         .       g.49317
 gctcactgcccatgattcagagctttcaaggataggctttattctgcaagcaatacaaat       c.*60

          .         .                                               g.49344
 aataaatctattctgctgagagatcac                                        c.*87

 (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 Hemoglobin, gamma A 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.