Canonical Allele Identifier: CA362967501

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533564T>A , CM000668.2:g.24533564T>A	GRCh38
NC_000006.11:g.24533792T>A , CM000668.1:g.24533792T>A	GRCh37
NC_000006.10:g.24641771T>A	NCBI36
NG_008161.1:g.43596T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1460T>A MANE Select	NP_001071.1:p.Val487Glu
ENST00000357578.8:c.1460T>A MANE Select	ENSP00000350191.3:p.Val487Glu
NM_001368954.1:c.1316T>A	NP_001355883.1:p.Val439Glu
NM_170740.1:c.1499T>A	NP_733936.1:p.Val500Glu
ENST00000348925.2:c.1499T>A	ENSP00000314649.3:p.Val500Glu
ENST00000357578.7:c.1460T>A	ENSP00000350191.3:p.Val487Glu
ENST00000479394.1:n.575T>A
ENST00000479394.2:n.575T>A
ENST00000491546.5:c.1376T>A	ENSP00000417687.1:p.Val459Glu
ENST00000492697.1:n.226T>A
ENST00000672352.1:c.1079T>A	ENSP00000500876.1:p.Val360Glu
ENST00000672652.1:c.1423T>A