Canonical Allele Identifier: CA3656912
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1578740
ClinVar RCV Id: RCV002083748
dbSNP Id: rs374536399
ExAC: 6:24528414 G / A
gnomAD v2: 6-24528414-G-A
gnomAD v3: 6-24528186-G-A
gnomAD v4: 6-24528186-G-A
MyVariant Identifiers: chr6:g.24528414G>A (hg19) chr6:g.24528186G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528186G>A , CM000668.2:g.24528186G>A GRCh38
NC_000006.11:g.24528414G>A , CM000668.1:g.24528414G>A GRCh37
NC_000006.10:g.24636393G>A NCBI36
NG_008161.1:g.38218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+20G>A MANE Select ENSP00000350191.3:n.1343+20G>A
ENST00000479394.2:n.458+20G>A
ENST00000672352.1:c.962+20G>A ENSP00000500876.1:n.962+20G>A
ENST00000672652.1:c.1306+20G>A
ENST00000348925.2:c.1382+20G>A ENSP00000314649.3:n.1382+20G>A
ENST00000357578.7:c.1343+20G>A ENSP00000350191.3:n.1343+20G>A
ENST00000479394.1:n.458+20G>A
ENST00000491546.5:c.1259+20G>A ENSP00000417687.1:n.1259+20G>A
NM_001080.3:c.1343+20G>A MANE Select NP_001071.1:n.1343+20G>A
NM_170740.1:c.1382+20G>A NP_733936.1:n.1382+20G>A
NM_001368954.1:c.1199+20G>A NP_001355883.1:n.1199+20G>A
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