Canonical Allele Identifier: CA2618489008

Gene: VDR

Linked Data

• gnomAD v4: 12-47905028-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47905028G>A , CM000674.2:g.47905028G>A	GRCh38
NC_000012.11:g.48298811G>A , CM000674.1:g.48298811G>A	GRCh37
NC_000012.10:g.46585078G>A	NCBI36
NG_008731.1:g.5004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.7:c.-279C>T	ENSP00000229022.3:n.-279C>T
ENST00000395324.6:c.-83-22254C>T	ENSP00000378734.2:n.-83-22254C>T
ENST00000548664.1:c.-279C>T	ENSP00000450105.1:n.-279C>T
NM_000376.2:c.-157C>T	NP_000367.1:n.-157C>T
NM_001017535.1:c.-279C>T	NP_001017535.1:n.-279C>T
NM_001017536.1:c.-398C>T	NP_001017536.1:n.-398C>T
XM_006719587.2:c.-76C>T	XP_006719650.1:n.-76C>T
NM_001364085.1:c.-157C>T	NP_001351014.1:n.-157C>T
XM_006719587.3:c.-76C>T	XP_006719650.1:n.-76C>T