Canonical Allele Identifier: CA362971604

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515202C>G , CM000668.2:g.24515202C>G	GRCh38
NC_000006.11:g.24515430C>G , CM000668.1:g.24515430C>G	GRCh37
NC_000006.10:g.24623409C>G	NCBI36
NG_008161.1:g.25234C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.762C>G MANE Select	NP_001071.1:p.Tyr254Ter
ENST00000357578.8:c.762C>G MANE Select	ENSP00000350191.3:p.Tyr254Ter
NM_001368954.1:c.727-5199C>G	NP_001355883.1:n.727-5199C>G
NM_170740.1:c.801C>G	NP_733936.1:p.Tyr267Ter
ENST00000348925.2:c.801C>G	ENSP00000314649.3:p.Tyr267Ter
ENST00000357578.7:c.762C>G	ENSP00000350191.3:p.Tyr254Ter
ENST00000491546.5:c.678C>G	ENSP00000417687.1:p.Tyr226Ter
ENST00000672352.1:c.490-5199C>G	ENSP00000500876.1:n.490-5199C>G
ENST00000672557.1:c.680C>G
ENST00000672619.1:n.122C>G
ENST00000672652.1:c.725C>G
ENST00000675422.1:n.1522C>G