Canonical Allele Identifier: CA362974067

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24520431A>G , CM000668.2:g.24520431A>G	GRCh38
NC_000006.11:g.24520659A>G , CM000668.1:g.24520659A>G	GRCh37
NC_000006.10:g.24628638A>G	NCBI36
NG_008161.1:g.30463A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.901A>G MANE Select	NP_001071.1:p.Lys301Glu
ENST00000357578.8:c.901A>G MANE Select	ENSP00000350191.3:p.Lys301Glu
NM_001368954.1:c.757A>G	NP_001355883.1:p.Lys253Glu
NM_170740.1:c.940A>G	NP_733936.1:p.Lys314Glu
ENST00000348925.2:c.940A>G	ENSP00000314649.3:p.Lys314Glu
ENST00000357578.7:c.901A>G	ENSP00000350191.3:p.Lys301Glu
ENST00000491546.5:c.817A>G	ENSP00000417687.1:p.Lys273Glu
ENST00000672352.1:c.520A>G	ENSP00000500876.1:p.Lys174Glu
ENST00000672557.1:c.819A>G
ENST00000672619.1:n.261A>G
ENST00000672652.1:c.864A>G