Canonical Allele Identifier: CA362979000

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24528150-C-A
• MyVariant Identifiers: chr6:g.24528378C>A (hg19) ; chr6:g.24528150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528150C>A , CM000668.2:g.24528150C>A	GRCh38
NC_000006.11:g.24528378C>A , CM000668.1:g.24528378C>A	GRCh37
NC_000006.10:g.24636357C>A	NCBI36
NG_008161.1:g.38182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1327C>A MANE Select	ENSP00000350191.3:p.Leu443Met
ENST00000479394.2:n.442C>A
ENST00000672352.1:c.946C>A	ENSP00000500876.1:p.Leu316Met
ENST00000672652.1:c.1290C>A
ENST00000348925.2:c.1366C>A	ENSP00000314649.3:p.Leu456Met
ENST00000357578.7:c.1327C>A	ENSP00000350191.3:p.Leu443Met
ENST00000479394.1:n.442C>A
ENST00000491546.5:c.1243C>A	ENSP00000417687.1:p.Leu415Met
NM_001080.3:c.1327C>A MANE Select	NP_001071.1:p.Leu443Met
NM_170740.1:c.1366C>A	NP_733936.1:p.Leu456Met
NM_001368954.1:c.1183C>A	NP_001355883.1:p.Leu395Met