Canonical Allele Identifier: CA479435221

Gene: VDR

Linked Data

• ClinVar Variation Id: 3016431
• ClinVar RCV Id: RCV003876582
• dbSNP Id: rs1371488626
• gnomAD v3: 12-47855791-G-A
• gnomAD v4: 12-47855791-G-A
• MyVariant Identifiers: chr12:g.48249574G>A (hg19) ; chr12:g.47855791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855791G>A , CM000674.2:g.47855791G>A	GRCh38
NC_000012.11:g.48249574G>A , CM000674.1:g.48249574G>A	GRCh37
NC_000012.10:g.46535841G>A	NCBI36
NG_008731.1:g.54241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.594C>T	ENSP00000229022.5:p.Asp198=
ENST00000549336.6:c.594C>T MANE Select	ENSP00000449573.2:p.Asp198=
ENST00000229022.7:c.594C>T	ENSP00000229022.3:p.Asp198=
ENST00000395324.6:c.594C>T	ENSP00000378734.2:p.Asp198=
ENST00000546653.5:c.594C>T	ENSP00000448659.1:p.Asp198=
ENST00000547065.1:c.*596C>T	ENSP00000449074.1:n.*596C>T
ENST00000549336.5:c.594C>T	ENSP00000449573.1:p.Asp198=
ENST00000550325.5:c.744C>T	ENSP00000447173.1:p.Asp248=
NM_000376.2:c.594C>T	NP_000367.1:p.Asp198=
NM_001017535.1:c.594C>T	NP_001017535.1:p.Asp198=
NM_001017536.1:c.744C>T	NP_001017536.1:p.Asp248=
XM_006719587.2:c.594C>T	XP_006719650.1:p.Asp198=
XM_011538720.1:c.594C>T	XP_011537022.1:p.Asp198=
NM_001364085.1:c.594C>T	NP_001351014.1:p.Asp198=
XM_006719587.3:c.594C>T	XP_006719650.1:p.Asp198=
XM_011538720.2:c.594C>T	XP_011537022.1:p.Asp198=
XM_024449178.1:c.663C>T	XP_024304946.1:p.Asp221=
NM_000376.3:c.594C>T MANE Select	NP_000367.1:p.Asp198=
NM_001017535.2:c.594C>T	NP_001017535.1:p.Asp198=
NM_001017536.2:c.744C>T	NP_001017536.1:p.Asp248=
NM_001364085.2:c.594C>T	NP_001351014.1:p.Asp198=
NM_001374661.1:c.594C>T	NP_001361590.1:p.Asp198=
NM_001374662.1:c.594C>T	NP_001361591.1:p.Asp198=