Canonical Allele Identifier: CA448787450

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528257A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528029A>G , CM000668.2:g.24528029A>G	GRCh38
NC_000006.11:g.24528257A>G , CM000668.1:g.24528257A>G	GRCh37
NC_000006.10:g.24636236A>G	NCBI36
NG_008161.1:g.38061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1206A>G MANE Select	ENSP00000350191.3:p.Lys402=
ENST00000479394.2:n.321A>G
ENST00000672352.1:c.825A>G	ENSP00000500876.1:p.Lys275=
ENST00000672652.1:c.1169A>G
ENST00000348925.2:c.1245A>G	ENSP00000314649.3:p.Lys415=
ENST00000357578.7:c.1206A>G	ENSP00000350191.3:p.Lys402=
ENST00000479394.1:n.321A>G
ENST00000491546.5:c.1122A>G	ENSP00000417687.1:p.Lys374=
NM_001080.3:c.1206A>G MANE Select	NP_001071.1:p.Lys402=
NM_170740.1:c.1245A>G	NP_733936.1:p.Lys415=
NM_001368954.1:c.1062A>G	NP_001355883.1:p.Lys354=