Canonical Allele Identifier: CA3656651
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1541461
ClinVar RCV Id: RCV002164594
dbSNP Id: rs779987239
ExAC: 6:24503598 G / A
gnomAD v2: 6-24503598-G-A
gnomAD v4: 6-24503370-G-A
MyVariant Identifiers: chr6:g.24503598G>A (hg19) chr6:g.24503370G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503370G>A , CM000668.2:g.24503370G>A GRCh38
NC_000006.11:g.24503598G>A , CM000668.1:g.24503598G>A GRCh37
NC_000006.10:g.24611577G>A NCBI36
NG_008161.1:g.13402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.546G>A MANE Select ENSP00000350191.3:p.Pro182=
ENST00000672352.1:c.309G>A ENSP00000500876.1:p.Pro103=
ENST00000672557.1:c.464G>A
ENST00000672652.1:c.467G>A
ENST00000675422.1:n.1306G>A
ENST00000348925.2:c.546G>A ENSP00000314649.3:p.Pro182=
ENST00000357578.7:c.546G>A ENSP00000350191.3:p.Pro182=
ENST00000491546.5:c.462G>A ENSP00000417687.1:p.Pro154=
NM_001080.3:c.546G>A MANE Select NP_001071.1:p.Pro182=
NM_170740.1:c.546G>A NP_733936.1:p.Pro182=
NM_001368954.1:c.546G>A NP_001355883.1:p.Pro182=
Search 100 bp 5'
Search 100 bp 3'