Canonical Allele Identifier: CA251762
Gene: ALDH5A1 HGNC NCBI
ClinVar RCV:
RCV000001424
RCV001725927
ClinVar Variation:
1359
dbSNP:
118203984
gnomAD v2:
6:24528277 G / A
gnomAD v3:
6:24528049 G / A
gnomAD v4:
chr6-24528049-G-A
Joint Max Group AF 0.00001107 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
MyVariant.info:
GRCh38 chr6:g.24528049G>A
GRCh37 chr6:g.24528277G>A
Revel Score:
ENST00000357578 (MANE Select) 0.936
ENST00000546278 0.936
ENST00000491546 0.936
ENST00000348925 0.936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528049G>A , CM000668.2:g.24528049G>A GRCh38
NC_000006.11:g.24528277G>A , CM000668.1:g.24528277G>A GRCh37
NC_000006.10:g.24636256G>A NCBI36
NG_008161.1:g.38081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1226G>A MANE Select ENSP00000350191.3:p.Gly409Asp
ENST00000479394.2:n.341G>A
ENST00000672352.1:c.845G>A ENSP00000500876.1:p.Gly282Asp
ENST00000672652.1:c.1189G>A
ENST00000348925.2:c.1265G>A ENSP00000314649.3:p.Gly422Asp
ENST00000357578.7:c.1226G>A ENSP00000350191.3:p.Gly409Asp
ENST00000479394.1:n.341G>A
ENST00000491546.5:c.1142G>A ENSP00000417687.1:p.Gly381Asp
NM_001080.3:c.1226G>A MANE Select NP_001071.1:p.Gly409Asp
NM_170740.1:c.1265G>A NP_733936.1:p.Gly422Asp
NM_001368954.1:c.1082G>A NP_001355883.1:p.Gly361Asp
Search 100 bp 5'
Search 100 bp 3'