Canonical Allele Identifier: CA3656880
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24528021G>A
GRCh37 chr6:g.24528249G>A
Revel Score:
ENST00000357578 (MANE Select) 0.182
ENST00000546278 0.182
ENST00000491546 0.182
ENST00000348925 0.182
gnomAD v2:
6:24528249 G / A
gnomAD v3:
6:24528021 G / A
gnomAD v4:
chr6-24528021-G-A
Joint Max Group AF 0.00291611 (AFR)
Genomes Max Group AF 0.00291317 (AFR)
Exomes Max Group AF 0.002623 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528021G>A , CM000668.2:g.24528021G>A GRCh38
NC_000006.11:g.24528249G>A , CM000668.1:g.24528249G>A GRCh37
NC_000006.10:g.24636228G>A NCBI36
NG_008161.1:g.38053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1198G>A MANE Select ENSP00000350191.3:p.Val400Ile
ENST00000479394.2:n.313G>A
ENST00000672352.1:c.817G>A ENSP00000500876.1:p.Val273Ile
ENST00000672652.1:c.1161G>A
ENST00000348925.2:c.1237G>A ENSP00000314649.3:p.Val413Ile
ENST00000357578.7:c.1198G>A ENSP00000350191.3:p.Val400Ile
ENST00000479394.1:n.313G>A
ENST00000491546.5:c.1114G>A ENSP00000417687.1:p.Val372Ile
NM_001080.3:c.1198G>A MANE Select NP_001071.1:p.Val400Ile
NM_170740.1:c.1237G>A NP_733936.1:p.Val413Ile
NM_001368954.1:c.1054G>A NP_001355883.1:p.Val352Ile
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