Canonical Allele Identifier: CA3656663

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 356132
• ClinVar RCV Id: RCV000371631 ; RCV000622989 ; RCV000730082 ; RCV003993939
• dbSNP Id: rs768219929
• ExAC: 6:24503641 G / A
• gnomAD v2: 6-24503641-G-A
• gnomAD v3: 6-24503413-G-A
• gnomAD v4: 6-24503413-G-A
• MyVariant Identifiers: chr6:g.24503641G>A (hg19) ; chr6:g.24503413G>A (hg38)
• PubMed: PMID:7726383 ; PMID:12743223 ; PMID:16298354 ; PMID:19172412 ; PMID:25431891 ; PMID:26268900 ; PMID:27268762

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503413G>A , CM000668.2:g.24503413G>A	GRCh38
NC_000006.11:g.24503641G>A , CM000668.1:g.24503641G>A	GRCh37
NC_000006.10:g.24611620G>A	NCBI36
NG_008161.1:g.13445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.589G>A MANE Select	ENSP00000350191.3:p.Val197Met
ENST00000672352.1:c.352G>A	ENSP00000500876.1:p.Val118Met
ENST00000672557.1:c.507G>A
ENST00000672652.1:c.510G>A
ENST00000675422.1:n.1349G>A
ENST00000348925.2:c.589G>A	ENSP00000314649.3:p.Val197Met
ENST00000357578.7:c.589G>A	ENSP00000350191.3:p.Val197Met
ENST00000491546.5:c.505G>A	ENSP00000417687.1:p.Val169Met
NM_001080.3:c.589G>A MANE Select	NP_001071.1:p.Val197Met
NM_170740.1:c.589G>A	NP_733936.1:p.Val197Met
NM_001368954.1:c.589G>A	NP_001355883.1:p.Val197Met