Canonical Allele Identifier: CA3656766

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24515302A>G , CM000668.2:g.24515302A>G	GRCh38
NC_000006.11:g.24515530A>G , CM000668.1:g.24515530A>G	GRCh37
NC_000006.10:g.24623509A>G	NCBI36
NG_008161.1:g.25334A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.862A>G MANE Select	NP_001071.1:p.Thr288Ala
ENST00000357578.8:c.862A>G MANE Select	ENSP00000350191.3:p.Thr288Ala
NM_001368954.1:c.727-5099A>G	NP_001355883.1:n.727-5099A>G
NM_170740.1:c.901A>G	NP_733936.1:p.Thr301Ala
ENST00000348925.2:c.901A>G	ENSP00000314649.3:p.Thr301Ala
ENST00000357578.7:c.862A>G	ENSP00000350191.3:p.Thr288Ala
ENST00000491546.5:c.778A>G	ENSP00000417687.1:p.Thr260Ala
ENST00000672352.1:c.490-5099A>G	ENSP00000500876.1:n.490-5099A>G
ENST00000672557.1:c.780A>G
ENST00000672619.1:n.222A>G
ENST00000672652.1:c.825A>G
ENST00000675422.1:n.1622A>G