Canonical Allele Identifier: CA467132487
Gene: GAPVD1 HGNC NCBI
HSPA5-DT HGNC NCBI

Linked Data

dbSNP Id: rs748050323
gnomAD v2: 9-128003995-C-A
gnomAD v3: 9-125241716-C-A
gnomAD v4: 9-125241716-C-A
MyVariant Identifiers: chr9:g.128003995C>A (hg19) chr9:g.125241716C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.125241716C>A , CM000671.2:g.125241716C>A GRCh38
NC_000009.11:g.128003995C>A , CM000671.1:g.128003995C>A GRCh37
NC_000009.10:g.127043816C>A NCBI36
NG_027761.1:g.4672G>T

Transcript Alleles

HGVS Amino-acid change
XM_011518501.1:c.-689C>A (GAPVD1) XP_011516803.1:n.-689C>A
XM_011518503.1:c.-995C>A (GAPVD1) XP_011516805.1:n.-995C>A
XM_011518504.1:c.-640C>A (GAPVD1) XP_011516806.1:n.-640C>A
XR_001746927.1:n.54C>A (HSPA5-DT)
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