Canonical Allele Identifier: CA362977905

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528231A>G (hg19) ; chr6:g.24528003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528003A>G , CM000668.2:g.24528003A>G	GRCh38
NC_000006.11:g.24528231A>G , CM000668.1:g.24528231A>G	GRCh37
NC_000006.10:g.24636210A>G	NCBI36
NG_008161.1:g.38035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1180A>G MANE Select	ENSP00000350191.3:p.Lys394Glu
ENST00000479394.2:n.295A>G
ENST00000672352.1:c.799A>G	ENSP00000500876.1:p.Lys267Glu
ENST00000672652.1:c.1143A>G
ENST00000348925.2:c.1219A>G	ENSP00000314649.3:p.Lys407Glu
ENST00000357578.7:c.1180A>G	ENSP00000350191.3:p.Lys394Glu
ENST00000479394.1:n.295A>G
ENST00000491546.5:c.1096A>G	ENSP00000417687.1:p.Lys366Glu
NM_001080.3:c.1180A>G MANE Select	NP_001071.1:p.Lys394Glu
NM_170740.1:c.1219A>G	NP_733936.1:p.Lys407Glu
NM_001368954.1:c.1036A>G	NP_001355883.1:p.Lys346Glu