Canonical Allele Identifier: CA3656655
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333412
ClinVar RCV Id: RCV001808100
dbSNP Id: rs779139147
ExAC: 6:24503615 C / T
gnomAD v2: 6-24503615-C-T
gnomAD v4: 6-24503387-C-T
MyVariant Identifiers: chr6:g.24503615C>T (hg19) chr6:g.24503387C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503387C>T , CM000668.2:g.24503387C>T GRCh38
NC_000006.11:g.24503615C>T , CM000668.1:g.24503615C>T GRCh37
NC_000006.10:g.24611594C>T NCBI36
NG_008161.1:g.13419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.563C>T MANE Select ENSP00000350191.3:p.Ala188Val
ENST00000672352.1:c.326C>T ENSP00000500876.1:p.Ala109Val
ENST00000672557.1:c.481C>T
ENST00000672652.1:c.484C>T
ENST00000675422.1:n.1323C>T
ENST00000348925.2:c.563C>T ENSP00000314649.3:p.Ala188Val
ENST00000357578.7:c.563C>T ENSP00000350191.3:p.Ala188Val
ENST00000491546.5:c.479C>T ENSP00000417687.1:p.Ala160Val
NM_001080.3:c.563C>T MANE Select NP_001071.1:p.Ala188Val
NM_170740.1:c.563C>T NP_733936.1:p.Ala188Val
NM_001368954.1:c.563C>T NP_001355883.1:p.Ala188Val
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