Canonical Allele Identifier: CA362967799

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533661T>G , CM000668.2:g.24533661T>G	GRCh38
NC_000006.11:g.24533889T>G , CM000668.1:g.24533889T>G	GRCh37
NC_000006.10:g.24641868T>G	NCBI36
NG_008161.1:g.43693T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1557T>G MANE Select	NP_001071.1:p.Tyr519Ter
ENST00000357578.8:c.1557T>G MANE Select	ENSP00000350191.3:p.Tyr519Ter
NM_001368954.1:c.1413T>G	NP_001355883.1:p.Tyr471Ter
NM_170740.1:c.1596T>G	NP_733936.1:p.Tyr532Ter
ENST00000348925.2:c.1596T>G	ENSP00000314649.3:p.Tyr532Ter
ENST00000357578.7:c.1557T>G	ENSP00000350191.3:p.Tyr519Ter
ENST00000479394.1:n.672T>G
ENST00000479394.2:n.672T>G
ENST00000491546.5:c.1473T>G	ENSP00000417687.1:p.Tyr491Ter
ENST00000492697.1:n.323T>G
ENST00000672352.1:c.1176T>G	ENSP00000500876.1:p.Tyr392Ter
ENST00000672652.1:c.1520T>G