Canonical Allele Identifier: CA362976566

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24522897C>A , CM000668.2:g.24522897C>A	GRCh38
NC_000006.11:g.24523125C>A , CM000668.1:g.24523125C>A	GRCh37
NC_000006.10:g.24631104C>A	NCBI36
NG_008161.1:g.32929C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1145C>A MANE Select	NP_001071.1:p.Pro382Gln
ENST00000357578.8:c.1145C>A MANE Select	ENSP00000350191.3:p.Pro382Gln
NM_001368954.1:c.1001C>A	NP_001355883.1:p.Pro334Gln
NM_170740.1:c.1184C>A	NP_733936.1:p.Pro395Gln
ENST00000348925.2:c.1184C>A	ENSP00000314649.3:p.Pro395Gln
ENST00000357578.7:c.1145C>A	ENSP00000350191.3:p.Pro382Gln
ENST00000479394.1:n.260C>A
ENST00000479394.2:n.260C>A
ENST00000491546.5:c.1061C>A	ENSP00000417687.1:p.Pro354Gln
ENST00000672352.1:c.764C>A	ENSP00000500876.1:p.Pro255Gln
ENST00000672619.1:n.505C>A
ENST00000672652.1:c.1108C>A