Canonical Allele Identifier: CA3656764

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515271G>A , CM000668.2:g.24515271G>A	GRCh38
NC_000006.11:g.24515499G>A , CM000668.1:g.24515499G>A	GRCh37
NC_000006.10:g.24623478G>A	NCBI36
NG_008161.1:g.25303G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.831G>A MANE Select	NP_001071.1:p.Val277=
ENST00000357578.8:c.831G>A MANE Select	ENSP00000350191.3:p.Val277=
NM_001368954.1:c.727-5130G>A	NP_001355883.1:n.727-5130G>A
NM_170740.1:c.870G>A	NP_733936.1:p.Val290=
ENST00000348925.2:c.870G>A	ENSP00000314649.3:p.Val290=
ENST00000357578.7:c.831G>A	ENSP00000350191.3:p.Val277=
ENST00000491546.5:c.747G>A	ENSP00000417687.1:p.Val249=
ENST00000672352.1:c.490-5130G>A	ENSP00000500876.1:n.490-5130G>A
ENST00000672557.1:c.749G>A
ENST00000672619.1:n.191G>A
ENST00000672652.1:c.794G>A
ENST00000675422.1:n.1591G>A