Canonical Allele Identifier: CA362978548

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528090A>G , CM000668.2:g.24528090A>G	GRCh38
NC_000006.11:g.24528318A>G , CM000668.1:g.24528318A>G	GRCh37
NC_000006.10:g.24636297A>G	NCBI36
NG_008161.1:g.38122A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1267A>G MANE Select	NP_001071.1:p.Thr423Ala
ENST00000357578.8:c.1267A>G MANE Select	ENSP00000350191.3:p.Thr423Ala
NM_001368954.1:c.1123A>G	NP_001355883.1:p.Thr375Ala
NM_170740.1:c.1306A>G	NP_733936.1:p.Thr436Ala
ENST00000348925.2:c.1306A>G	ENSP00000314649.3:p.Thr436Ala
ENST00000357578.7:c.1267A>G	ENSP00000350191.3:p.Thr423Ala
ENST00000479394.1:n.382A>G
ENST00000479394.2:n.382A>G
ENST00000491546.5:c.1183A>G	ENSP00000417687.1:p.Thr395Ala
ENST00000672352.1:c.886A>G	ENSP00000500876.1:p.Thr296Ala
ENST00000672652.1:c.1230A>G