Canonical Allele Identifier: CA362978483

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528309T>C (hg19) ; chr6:g.24528081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528081T>C , CM000668.2:g.24528081T>C	GRCh38
NC_000006.11:g.24528309T>C , CM000668.1:g.24528309T>C	GRCh37
NC_000006.10:g.24636288T>C	NCBI36
NG_008161.1:g.38113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1258T>C MANE Select	ENSP00000350191.3:p.Phe420Leu
ENST00000479394.2:n.373T>C
ENST00000672352.1:c.877T>C	ENSP00000500876.1:p.Phe293Leu
ENST00000672652.1:c.1221T>C
ENST00000348925.2:c.1297T>C	ENSP00000314649.3:p.Phe433Leu
ENST00000357578.7:c.1258T>C	ENSP00000350191.3:p.Phe420Leu
ENST00000479394.1:n.373T>C
ENST00000491546.5:c.1174T>C	ENSP00000417687.1:p.Phe392Leu
NM_001080.3:c.1258T>C MANE Select	NP_001071.1:p.Phe420Leu
NM_170740.1:c.1297T>C	NP_733936.1:p.Phe433Leu
NM_001368954.1:c.1114T>C	NP_001355883.1:p.Phe372Leu