Allele Registry

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.

Canonical Allele Identifier: CA2596101798

Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs2137268544

gnomAD v3: 12-47908746-A-G

gnomAD v4: 12-47908746-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47908746A>G , CM000674.2:g.47908746A>G	GRCh38
NC_000012.11:g.48302529A>G , CM000674.1:g.48302529A>G	GRCh37
NC_000012.10:g.46588796A>G	NCBI36
NG_008731.1:g.1286T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395324.6:c.-83-25972T>C	ENSP00000378734.2:n.-83-25972T>C

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