Canonical Allele Identifier: CA16604920
Gene: ALDH5A1 HGNC NCBI
ClinVar RCV:
RCV000423242
RCV001064033
ClinVar Variation:
379247
dbSNP:
72552281
gnomAD v2:
6:24503578 G / A
gnomAD v3:
6:24503350 G / A
gnomAD v4:
chr6-24503350-G-A
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
MyVariant.info:
GRCh38 chr6:g.24503350G>A
GRCh37 chr6:g.24503578G>A
Revel Score:
ENST00000357578 (MANE Select) 0.953
ENST00000546278 0.953
ENST00000491546 0.953
ENST00000348925 0.953
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503350G>A , CM000668.2:g.24503350G>A GRCh38
NC_000006.11:g.24503578G>A , CM000668.1:g.24503578G>A GRCh37
NC_000006.10:g.24611557G>A NCBI36
NG_008161.1:g.13382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.526G>A MANE Select ENSP00000350191.3:p.Gly176Arg
ENST00000672352.1:c.289G>A ENSP00000500876.1:p.Gly97Arg
ENST00000672557.1:c.444G>A
ENST00000672652.1:c.447G>A
ENST00000675422.1:n.1286G>A
ENST00000348925.2:c.526G>A ENSP00000314649.3:p.Gly176Arg
ENST00000357578.7:c.526G>A ENSP00000350191.3:p.Gly176Arg
ENST00000491546.5:c.442G>A ENSP00000417687.1:p.Gly148Arg
NM_001080.3:c.526G>A MANE Select NP_001071.1:p.Gly176Arg
NM_170740.1:c.526G>A NP_733936.1:p.Gly176Arg
NM_001368954.1:c.526G>A NP_001355883.1:p.Gly176Arg
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