(used for variant description)
(last modified August 11, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_000403.3 in the GALE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering GALE transcript NM_000403.3.
(upstream sequence)
. . . . . g.5314
tcattcattgccggcctgaggactcctagctcggccccgctccgcgctacagcc c.-181
. . . . . . g.5374
caaagcccagcctgagacccagccgccctcgtatgcccacggcctagctccccttccctc c.-121
. . . . . | 02 . g.6384
caacagacagactgggaaaaccgagtgggcgacggctgagcaag | gactctccagtcctca c.-61
. . . . . . | 03 g.6797
gtcaccttggacaaagaagtgtggatcctcagattccatcttttccaactccaag | gtgcc c.-1
. . . . . . g.6857
ATGGCAGAGAAGGTGCTGGTAACAGGTGGGGCTGGCTACATTGGCAGCCACACGGTGCTG c.60
M A E K V L V T G G A G Y I G S H T V L p.20
. . . . . . g.6917
GAGCTGCTGGAGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGT c.120
E L L E A G Y L P V V I D N F H N A F R p.40
| 04 . . . . . . g.7133
G | GAGGGGGCTCCCTGCCTGAGAGCCTGCGGCGGGTCCAGGAGCTGACAGGCCGCTCTGTG c.180
G | G G S L P E S L R R V Q E L T G R S V p.60
. . . . . | 05. g.7577
GAGTTTGAGGAGATGGACATTTTGGACCAGGGAGCCCTACAGCGTCTCTTCAAAAAG | TAC c.240
E F E E M D I L D Q G A L Q R L F K K | Y p.80
. . . . . . g.7637
AGCTTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAG c.300
S F M A V I H F A G L K A V G E S V Q K p.100
. . . . . | 06 . g.7942
CCTCTGGATTATTACAGAGTTAACCTGACCGGGACCATCCAGCTTCTGGAG | ATCATGAAG c.360
P L D Y Y R V N L T G T I Q L L E | I M K p.120
. . . . . . g.8002
GCCCACGGGGTGAAGAACCTGGTGTTCAGCAGCTCAGCCACTGTGTACGGGAACCCCCAG c.420
A H G V K N L V F S S S A T V Y G N P Q p.140
. . . . . . g.8062
TACCTGCCCCTTGATGAGGCCCACCCCACGGGTGGTTGTACCAACCCTTACGGCAAGTCC c.480
Y L P L D E A H P T G G C T N P Y G K S p.160
. . . . | 07 . g.8669
AAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAG | ACTTGGAACGCA c.540
K F F I E E M I R D L C Q A D K | T W N A p.180
. . . . . . g.8729
GTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGCCTCTGGCTGCATTGGTGAGGAT c.600
V L L R Y F N P T G A H A S G C I G E D p.200
. . . . | 08 . . g.8880
CCCCAGGGCATACCCAACAACCTCATGCCTTATGTCTCCCAG | GTGGCGATCGGGCGACGG c.660
P Q G I P N N L M P Y V S Q | V A I G R R p.220
. . . . | 09 . g.9033
GAGGCCCTGAATGTCTTTGGCAATGACTATGACACAGAGGATGGCACAG | GTGTCCGGGAT c.720
E A L N V F G N D Y D T E D G T G | V R D p.240
. . . . . . g.9093
TACATCCATGTCGTGGATCTGGCCAAGGGCCACATTGCAGCCTTAAGGAAGCTGAAAGAA c.780
Y I H V V D L A K G H I A A L R K L K E p.260
. | 10 . . . . . g.9263
CAGTGTGGCTGCCGG | ATCTACAACCTGGGCACGGGCACAGGCTATTCAGTGCTGCAGATG c.840
Q C G C R | I Y N L G T G T G Y S V L Q M p.280
. . . | 11 . . . g.9566
GTCCAGGCTATGGAGAAGGCCTCTGGGAAGAAG | ATCCCGTACAAGGTGGTGGCACGGCGG c.900
V Q A M E K A S G K K | I P Y K V V A R R p.300
. . . . . . g.9626
GAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAGCCTGGCCCAAGAGGAGCTGGGGTGG c.960
E G D V A A C Y A N P S L A Q E E L G W p.320
. . | 12 . . . g.9829
ACAGCAGCCTTAGGGCTGGACAGGATGT | GTGAGGATCTCTGGCGCTGGCAGAAGCAGAAT c.1020
T A A L G L D R M C | E D L W R W Q K Q N p.340
. . g.9856
CCTTCAGGCTTTGGCACGCAAGCCTGA c.1047
P S G F G T Q A X p.348
. . . . . . g.9916
ggaccctcccctaccaaggaccaggaaaagcagcagctgcctgctctccagcctctggca c.*60
. . . . . . g.9976
ggaactcagggccctggagctgctggggccaagccaaggcctcccctacctcaaacccca c.*120
. . . . . . g.10036
gctgggcccgcttagcccaccaggcatgaggccaagggctccactgaccaggaggccgag c.*180
. . . . . . g.10096
gtctctaactcttatcttccacagggtccaagagttcatcaggacccccaagagtgagtg c.*240
. . . . . . g.10156
agggggcaaggctctggcacaaaacctcctcctcccaggcactcatttatattgctctga c.*300
. . . . . g.10206
aagagctttccaaagtatttaaaaataaaaacaagttttcttacactggg c.*350
(downstream sequence)
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