Canonical Allele Identifier: CA3656663
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 356132
dbSNP Id: rs768219929
gnomAD v2: 6-24503641-G-A
gnomAD v3: 6-24503413-G-A
gnomAD v4: 6-24503413-G-A

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