Canonical Allele Identifier: CA10632860

Gene: VDR

Linked Data

• ClinVar Variation Id: 308860
• ClinVar RCV Id: RCV000379014
• dbSNP Id: rs886049431
• gnomAD v3: 12-47844212-A-G
• gnomAD v4: 12-47844212-A-G
• MyVariant Identifiers: chr12:g.48237995A>G (hg19) ; chr12:g.47844212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844212A>G , CM000674.2:g.47844212A>G	GRCh38
NC_000012.11:g.48237995A>G , CM000674.1:g.48237995A>G	GRCh37
NC_000012.10:g.46524262A>G	NCBI36
NG_008731.1:g.65820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.*333T>C	ENSP00000229022.5:n.*333T>C
ENST00000549336.6:c.*534T>C MANE Select	ENSP00000449573.2:n.*534T>C
ENST00000229022.7:c.*534T>C	ENSP00000229022.3:n.*534T>C
ENST00000395324.6:c.*534T>C	ENSP00000378734.2:n.*534T>C
ENST00000549336.5:c.*534T>C	ENSP00000449573.1:n.*534T>C
ENST00000550325.5:c.*534T>C	ENSP00000447173.1:n.*534T>C
NM_000376.2:c.*534T>C	NP_000367.1:n.*534T>C
NM_001017535.1:c.*534T>C	NP_001017535.1:n.*534T>C
NM_001017536.1:c.*534T>C	NP_001017536.1:n.*534T>C
XM_006719587.2:c.*534T>C	XP_006719650.1:n.*534T>C
XM_011538720.1:c.*534T>C	XP_011537022.1:n.*534T>C
NM_001364085.1:c.*333T>C	NP_001351014.1:n.*333T>C
NM_000376.3:c.*534T>C MANE Select	NP_000367.1:n.*534T>C
NM_001017535.2:c.*534T>C	NP_001017535.1:n.*534T>C
NM_001017536.2:c.*534T>C	NP_001017536.1:n.*534T>C
NM_001364085.2:c.*333T>C	NP_001351014.1:n.*333T>C
NM_001374661.1:c.*534T>C	NP_001361590.1:n.*534T>C
NM_001374662.1:c.*534T>C	NP_001361591.1:n.*534T>C