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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA467132494
Gene: GAPVD1
HGNC
NCBI
HSPA5-DT
HGNC
NCBI
Linked Data
gnomAD v4:
9-125241718-C-A
MyVariant Identifiers:
chr9:g.128003997C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.125241718C>A , CM000671.2:g.125241718C>A
GRCh38
NC_000009.11:g.128003997C>A , CM000671.1:g.128003997C>A
GRCh37
NC_000009.10:g.127043818C>A
NCBI36
NG_027761.1:g.4670G>T
Transcript Alleles
HGVS
Amino-acid change
XM_011518501.1:c.-687C>A
(GAPVD1)
XP_011516803.1:n.-687C>A
XM_011518503.1:c.-993C>A
(GAPVD1)
XP_011516805.1:n.-993C>A
XM_011518504.1:c.-638C>A
(GAPVD1)
XP_011516806.1:n.-638C>A
XR_001746927.1:n.56C>A
(HSPA5-DT)
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