Canonical Allele Identifier: CA3656565
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459991
ClinVar RCV Id: RCV000537726
dbSNP Id: rs371923295
ExAC: 6:24495286 G / A
gnomAD v2: 6-24495286-G-A
gnomAD v3: 6-24495058-G-A
gnomAD v4: 6-24495058-G-A
MyVariant Identifiers: chr6:g.24495286G>A (hg19) chr6:g.24495058G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495058G>A , CM000668.2:g.24495058G>A GRCh38
NC_000006.11:g.24495286G>A , CM000668.1:g.24495286G>A GRCh37
NC_000006.10:g.24603265G>A NCBI36
NG_008161.1:g.5090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.62G>A (ALDH5A1) MANE Select ENSP00000350191.3:p.Gly21Asp
ENST00000348925.2:c.62G>A (ALDH5A1) ENSP00000314649.3:p.Gly21Asp
ENST00000357578.7:c.62G>A (ALDH5A1) ENSP00000350191.3:p.Gly21Asp
ENST00000474784.5:n.148C>T (GPLD1)
ENST00000475417.1:n.142C>T (GPLD1)
ENST00000491546.5:c.62G>A (ALDH5A1) ENSP00000417687.1:p.Gly21Asp
NM_001080.3:c.62G>A (ALDH5A1) MANE Select NP_001071.1:p.Gly21Asp
NM_170740.1:c.62G>A (ALDH5A1) NP_733936.1:p.Gly21Asp
XM_017010753.2:c.-48C>T (GPLD1) XP_016866242.1:n.-48C>T
XR_002956277.1:n.175C>T (GPLD1)
NM_001368954.1:c.62G>A (ALDH5A1) NP_001355883.1:p.Gly21Asp
Search 100 bp 5'
Search 100 bp 3'