Canonical Allele Identifier: CA3656653
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 849116
ClinVar RCV Id: RCV001053004
dbSNP Id: rs755160772
ExAC: 6:24503612 G / A
gnomAD v2: 6-24503612-G-A
gnomAD v4: 6-24503384-G-A
MyVariant Identifiers: chr6:g.24503612G>A (hg19) chr6:g.24503384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503384G>A , CM000668.2:g.24503384G>A GRCh38
NC_000006.11:g.24503612G>A , CM000668.1:g.24503612G>A GRCh37
NC_000006.10:g.24611591G>A NCBI36
NG_008161.1:g.13416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.560G>A MANE Select ENSP00000350191.3:p.Arg187Gln
ENST00000672352.1:c.323G>A ENSP00000500876.1:p.Arg108Gln
ENST00000672557.1:c.478G>A
ENST00000672652.1:c.481G>A
ENST00000675422.1:n.1320G>A
ENST00000348925.2:c.560G>A ENSP00000314649.3:p.Arg187Gln
ENST00000357578.7:c.560G>A ENSP00000350191.3:p.Arg187Gln
ENST00000491546.5:c.476G>A ENSP00000417687.1:p.Arg159Gln
NM_001080.3:c.560G>A MANE Select NP_001071.1:p.Arg187Gln
NM_170740.1:c.560G>A NP_733936.1:p.Arg187Gln
NM_001368954.1:c.560G>A NP_001355883.1:p.Arg187Gln
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