Canonical Allele Identifier: CA136113769

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24533602G>C , CM000668.2:g.24533602G>C	GRCh38
NC_000006.11:g.24533830G>C , CM000668.1:g.24533830G>C	GRCh37
NC_000006.10:g.24641809G>C	NCBI36
NG_008161.1:g.43634G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1498G>C MANE Select	NP_001071.1:p.Val500Leu
ENST00000357578.8:c.1498G>C MANE Select	ENSP00000350191.3:p.Val500Leu
NM_001368954.1:c.1354G>C	NP_001355883.1:p.Val452Leu
NM_170740.1:c.1537G>C	NP_733936.1:p.Val513Leu
ENST00000348925.2:c.1537G>C	ENSP00000314649.3:p.Val513Leu
ENST00000357578.7:c.1498G>C	ENSP00000350191.3:p.Val500Leu
ENST00000479394.1:n.613G>C
ENST00000479394.2:n.613G>C
ENST00000491546.5:c.1414G>C	ENSP00000417687.1:p.Val472Leu
ENST00000492697.1:n.264G>C
ENST00000672352.1:c.1117G>C	ENSP00000500876.1:p.Val373Leu
ENST00000672652.1:c.1461G>C