Canonical Allele Identifier: CA2618488998

Gene: VDR

Linked Data

• gnomAD v4: 12-47905019-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47905019T>C , CM000674.2:g.47905019T>C	GRCh38
NC_000012.11:g.48298802T>C , CM000674.1:g.48298802T>C	GRCh37
NC_000012.10:g.46585069T>C	NCBI36
NG_008731.1:g.5013A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.7:c.-270A>G	ENSP00000229022.3:n.-270A>G
ENST00000395324.6:c.-83-22245A>G	ENSP00000378734.2:n.-83-22245A>G
ENST00000547065.1:c.-67A>G	ENSP00000449074.1:n.-67A>G
ENST00000548664.1:c.-270A>G	ENSP00000450105.1:n.-270A>G
ENST00000549336.5:c.-148A>G	ENSP00000449573.1:n.-148A>G
NM_000376.2:c.-148A>G	NP_000367.1:n.-148A>G
NM_001017535.1:c.-270A>G	NP_001017535.1:n.-270A>G
NM_001017536.1:c.-389A>G	NP_001017536.1:n.-389A>G
XM_006719587.2:c.-67A>G	XP_006719650.1:n.-67A>G
XM_011538720.1:c.-189A>G	XP_011537022.1:n.-189A>G
NM_001364085.1:c.-148A>G	NP_001351014.1:n.-148A>G
XM_006719587.3:c.-67A>G	XP_006719650.1:n.-67A>G
XM_011538720.2:c.-189A>G	XP_011537022.1:n.-189A>G