Canonical Allele Identifier: CA3656957
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24533578G>A
GRCh37 chr6:g.24533806G>A
Revel Score:
ENST00000357578 (MANE Select) 0.227
ENST00000546278 0.227
ENST00000491546 0.227
ENST00000348925 0.227
gnomAD v2:
6:24533806 G / A
gnomAD v3:
6:24533578 G / A
gnomAD v4:
chr6-24533578-G-A
Joint Max Group AF 0.00040157 (AFR)
Genomes Max Group AF 0.00051889 (AFR)
Exomes Max Group AF 0.00023278 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24533578G>A , CM000668.2:g.24533578G>A GRCh38
NC_000006.11:g.24533806G>A , CM000668.1:g.24533806G>A GRCh37
NC_000006.10:g.24641785G>A NCBI36
NG_008161.1:g.43610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1474G>A MANE Select ENSP00000350191.3:p.Val492Ile
ENST00000479394.2:n.589G>A
ENST00000672352.1:c.1093G>A ENSP00000500876.1:p.Val365Ile
ENST00000672652.1:c.1437G>A
ENST00000348925.2:c.1513G>A ENSP00000314649.3:p.Val505Ile
ENST00000357578.7:c.1474G>A ENSP00000350191.3:p.Val492Ile
ENST00000479394.1:n.589G>A
ENST00000491546.5:c.1390G>A ENSP00000417687.1:p.Val464Ile
ENST00000492697.1:n.240G>A
NM_001080.3:c.1474G>A MANE Select NP_001071.1:p.Val492Ile
NM_170740.1:c.1513G>A NP_733936.1:p.Val505Ile
NM_001368954.1:c.1330G>A NP_001355883.1:p.Val444Ile
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