melanoma antigen family A, 8 (MAGEA8) - coding DNA reference sequence

(used for variant description)

(last modified June 4, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_001166400.1 in the MAGEA8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_015868.1, covering MAGEA8 transcript NM_001166400.1.

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

 (upstream sequence)
                                                                    g.5009
                                                    gttgtccac       c.-541

 .         .         .         .         .         .                g.5069
 ccaggtgagccctgggtggacggatgtgacgccactgacgtggccgcggggatcagagag       c.-481

 .         .         .         .         .         .                g.5129
 aagcgagggcctggttctgaggggtcggcttgagatcggctgagggaagcgggctcaggg       c.-421

 .         .      | 02  .         .         .         .             g.6948
 tctgtgaggaggcaag | caggcaaaaaacagatgggggcccaacagaaatctgcccggcct    c.-361

 .         .         .         .         .         .                g.7008
 cttttgtcacccctgagagcatgagcaggactatcagctgaggcccctgtgttataccag       c.-301

 .         .         .         .         .         .                g.7068
 actcattggtctcagggagaagaaggccttggtctgagggcactgcattcaggtcagcag       c.-241

 .         .         .         .         .         .                g.7128
 agcgggggtccaaggccctgccaggagtcagggactcagaggacaccactcaccaaacac       c.-181

 .         .         .         .         .         .     | 03       g.7911
 acaggaccgaaccccaccctgcaccttctgtcagccatgggaagtgcagggaaag | gttcg    c.-121

 .         .         .         .         .         .       | 04     g.8046
 cagagaacaggccagccaggaggtcaggaggccccagagaagcactgaagaagacct | gcc    c.-61

 .         .         .         .         .         .                g.8106
 tgtgggtctcaattgcccagctccggcccacactctcctgctgccctgacctgagtcatc       c.-1

          .         .         .         .         .         .       g.8166
 ATGCTTCTTGGGCAGAAGAGTCAGCGCTACAAGGCTGAGGAAGGCCTTCAGGCCCAAGGA       c.60
 M  L  L  G  Q  K  S  Q  R  Y  K  A  E  E  G  L  Q  A  Q  G         p.20

          .         .         .         .         .         .       g.8226
 GAGGCACCAGGGCTTATGGATGTGCAGATTCCCACAGCTGAGGAGCAGAAGGCTGCATCC       c.120
 E  A  P  G  L  M  D  V  Q  I  P  T  A  E  E  Q  K  A  A  S         p.40

          .         .         .         .         .         .       g.8286
 TCCTCCTCTACTCTGATCATGGGAACCCTTGAGGAGGTGACTGATTCTGGGTCACCAAGT       c.180
 S  S  S  T  L  I  M  G  T  L  E  E  V  T  D  S  G  S  P  S         p.60

          .         .         .         .         .         .       g.8346
 CCTCCCCAGAGTCCTGAGGGTGCCTCCTCTTCCCTGACTGTCACCGACAGCACTCTGTGG       c.240
 P  P  Q  S  P  E  G  A  S  S  S  L  T  V  T  D  S  T  L  W         p.80

          .         .         .         .         .         .       g.8406
 AGCCAATCCGATGAGGGTTCCAGCAGCAATGAAGAGGAGGGGCCAAGCACCTCCCCGGAC       c.300
 S  Q  S  D  E  G  S  S  S  N  E  E  E  G  P  S  T  S  P  D         p.100

          .         .         .         .         .         .       g.8466
 CCAGCTCACCTGGAGTCCCTGTTCCGGGAAGCACTTGATGAGAAAGTGGCTGAGTTAGTT       c.360
 P  A  H  L  E  S  L  F  R  E  A  L  D  E  K  V  A  E  L  V         p.120

          .         .         .         .         .         .       g.8526
 CGTTTCCTGCTCCGCAAATATCAAATTAAGGAGCCGGTCACAAAGGCAGAAATGCTTGAG       c.420
 R  F  L  L  R  K  Y  Q  I  K  E  P  V  T  K  A  E  M  L  E         p.140

          .         .         .         .         .         .       g.8586
 AGTGTCATCAAAAATTACAAGAACCACTTTCCTGATATCTTCAGCAAAGCCTCTGAGTGC       c.480
 S  V  I  K  N  Y  K  N  H  F  P  D  I  F  S  K  A  S  E  C         p.160

          .         .         .         .         .         .       g.8646
 ATGCAGGTGATCTTTGGCATTGATGTGAAGGAAGTGGACCCTGCCGGCCACTCCTACATC       c.540
 M  Q  V  I  F  G  I  D  V  K  E  V  D  P  A  G  H  S  Y  I         p.180

          .         .         .         .         .         .       g.8706
 CTTGTCACCTGCCTGGGCCTCTCCTATGATGGCCTGCTGGGTGATGATCAGAGTACGCCC       c.600
 L  V  T  C  L  G  L  S  Y  D  G  L  L  G  D  D  Q  S  T  P         p.200

          .         .         .         .         .         .       g.8766
 AAGACCGGCCTCCTGATAATCGTCCTGGGCATGATCTTAATGGAGGGCAGCCGCGCCCCG       c.660
 K  T  G  L  L  I  I  V  L  G  M  I  L  M  E  G  S  R  A  P         p.220

          .         .         .         .         .         .       g.8826
 GAGGAGGCAATCTGGGAAGCATTGAGTGTGATGGGGCTGTATGATGGGAGGGAGCACAGT       c.720
 E  E  A  I  W  E  A  L  S  V  M  G  L  Y  D  G  R  E  H  S         p.240

          .         .         .         .         .         .       g.8886
 GTCTATTGGAAGCTCAGGAAGCTGCTCACCCAAGAGTGGGTGCAGGAGAACTACCTGGAG       c.780
 V  Y  W  K  L  R  K  L  L  T  Q  E  W  V  Q  E  N  Y  L  E         p.260

          .         .         .         .         .         .       g.8946
 TACCGCCAGGCGCCCGGCAGTGATCCTGTGCGCTACGAGTTCCTGTGGGGTCCAAGGGCC       c.840
 Y  R  Q  A  P  G  S  D  P  V  R  Y  E  F  L  W  G  P  R  A         p.280

          .         .         .         .         .         .       g.9006
 CTTGCTGAAACCAGCTATGTGAAAGTCCTGGAGCATGTGGTCAGGGTCAATGCAAGAGTT       c.900
 L  A  E  T  S  Y  V  K  V  L  E  H  V  V  R  V  N  A  R  V         p.300

          .         .         .         .         .                 g.9063
 CGCATTTCCTACCCATCCCTGCATGAAGAGGCTTTGGGAGAGGAGAAAGGAGTTTGA          c.957
 R  I  S  Y  P  S  L  H  E  E  A  L  G  E  E  K  G  V  X            p.318

          .         .         .         .         .         .       g.9123
 gcaggagttgcagctagggccagtggggcaggttgtgggagggcctgggccagtgcacgt       c.*60

          .         .         .         .         .         .       g.9183
 tccagggccacatccaccactttccctgctctgttacatgaggcccattcttcactctgt       c.*120

          .         .         .         .         .         .       g.9243
 gtttgaagagagcagtcacagttctcagtagtggggagcatgttgggtgtgagggaacac       c.*180

          .         .         .         .         .         .       g.9303
 agtgtggaccatctctcagttcctgttctattgggcgatttggaggtttatctttgtttc       c.*240

          .         .         .         .         .         .       g.9363
 cttttggaattgttccaatgttccttctaatggatggtgtaatgaacttcaacattcatt       c.*300

          .         .         .         .         .         .       g.9423
 ttatgtatgacagtagacagacttactgctttttatatagtttaggagtaagagtcttgc       c.*360

          .         .         .         .         .         .       g.9483
 ttttcatttatactgggaaacccatgttatttcttgaattcagacactacaagagcagag       c.*420

          .         .         .         .         .         .       g.9543
 gattaaggtttttttagaaatgtgaaacaacatagcagtaaaatacatgagataaagaca       c.*480

          .         .         .         .         .         .       g.9603
 taaagaaattaaacaatagttaattcttgccttacctgtacctcttagtgtaccctatgt       c.*540

          .         .         .         .         .         .       g.9663
 acctgaatttgcttggcttctttgagaatgaaattgaattaaatatgaataaataagtcc       c.*600

                                                                    g.9669
 ccctgc                                                             c.*606

 (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 Melanoma antigen family A, 8 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.