Canonical Allele Identifier: CA13000152
Gene: GAPVD1 HGNC NCBI
HSPA5-DT HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.125241745T>C
GRCh37 chr9:g.128004024T>C
gnomAD v2:
9:128004024 T / C
gnomAD v3:
9:125241745 T / C
gnomAD v4:
chr9-125241745-T-C
Joint Max Group AF 0.87898902 (AFR)
Genomes Max Group AF 0.87897798 (AFR)
Exomes Max Group AF 0.73721416 (AFR)
dbSNP:
391957
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.125241745T>C , CM000671.2:g.125241745T>C GRCh38
NC_000009.11:g.128004024T>C , CM000671.1:g.128004024T>C GRCh37
NC_000009.10:g.127043845T>C NCBI36
NG_027761.1:g.4643A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011518501.1:c.-660T>C (GAPVD1) XP_011516803.1:n.-660T>C
XM_011518503.1:c.-966T>C (GAPVD1) XP_011516805.1:n.-966T>C
XM_011518504.1:c.-611T>C (GAPVD1) XP_011516806.1:n.-611T>C
XR_001746927.1:n.83T>C (HSPA5-DT)
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