Canonical Allele Identifier: CA14119082
Gene: ALDH1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.57954718A>G
GRCh37 chr15:g.58246916A>G
gnomAD v2:
15:58246916 A / G
gnomAD v3:
15:57954718 A / G
gnomAD v4:
chr15-57954718-A-G
Joint Max Group AF 0.53596972 (NFE)
Genomes Max Group AF 0.54218742 (NFE)
Exomes Max Group AF 0.50833883 (NFE)
dbSNP:
4646642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.57954718A>G , CM000677.2:g.57954718A>G GRCh38
NC_000015.9:g.58246916A>G , CM000677.1:g.58246916A>G GRCh37
NC_000015.8:g.56034208A>G NCBI36
NG_012259.1:g.115991T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.*479T>C MANE Select ENSP00000249750.4:n.*479T>C
ENST00000249750.8:c.*479T>C ENSP00000249750.4:n.*479T>C
ENST00000347587.7:c.*479T>C ENSP00000309623.3:n.*479T>C
ENST00000430119.6:c.*2010T>C ENSP00000416754.2:n.*2010T>C
ENST00000537372.5:c.*479T>C ENSP00000438296.1:n.*479T>C
ENST00000558384.1:c.242+310T>C
ENST00000560312.5:n.1857T>C
NM_001206897.1:c.*479T>C NP_001193826.1:n.*479T>C
NM_003888.3:c.*479T>C NP_003879.2:n.*479T>C
NM_170696.2:c.*479T>C NP_733797.1:n.*479T>C
NM_170697.2:c.*479T>C NP_733798.1:n.*479T>C
NM_003888.4:c.*479T>C MANE Select NP_003879.2:n.*479T>C
NM_170696.3:c.*479T>C NP_733797.1:n.*479T>C
NM_170697.3:c.*479T>C NP_733798.1:n.*479T>C
NM_001206897.2:c.*479T>C NP_001193826.1:n.*479T>C
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