Canonical Allele Identifier: CA362977891

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24527997-G-T
• MyVariant Identifiers: chr6:g.24528225G>T (hg19) ; chr6:g.24527997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24527997G>T , CM000668.2:g.24527997G>T	GRCh38
NC_000006.11:g.24528225G>T , CM000668.1:g.24528225G>T	GRCh37
NC_000006.10:g.24636204G>T	NCBI36
NG_008161.1:g.38029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1174G>T MANE Select	ENSP00000350191.3:p.Val392Leu
ENST00000479394.2:n.289G>T
ENST00000672352.1:c.793G>T	ENSP00000500876.1:p.Val265Leu
ENST00000672652.1:c.1137G>T
ENST00000348925.2:c.1213G>T	ENSP00000314649.3:p.Val405Leu
ENST00000357578.7:c.1174G>T	ENSP00000350191.3:p.Val392Leu
ENST00000479394.1:n.289G>T
ENST00000491546.5:c.1090G>T	ENSP00000417687.1:p.Val364Leu
NM_001080.3:c.1174G>T MANE Select	NP_001071.1:p.Val392Leu
NM_170740.1:c.1213G>T	NP_733936.1:p.Val405Leu
NM_001368954.1:c.1030G>T	NP_001355883.1:p.Val344Leu