Canonical Allele Identifier: CA119018

Gene: VDR

Linked Data

• ClinVar Variation Id: 7745
• ClinVar RCV Id: RCV000008186
• dbSNP Id: rs121909790
• gnomAD v4: 12-47879016-C-T
• COSMIC: COSM939714
• MyVariant Identifiers: chr12:g.48272799C>T (hg19) ; chr12:g.47879016C>T (hg38)
• PubMed: PMID:2849209

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47879016C>T , CM000674.2:g.47879016C>T	GRCh38
NC_000012.11:g.48272799C>T , CM000674.1:g.48272799C>T	GRCh37
NC_000012.10:g.46559066C>T	NCBI36
NG_008731.1:g.31016G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.98G>A	ENSP00000229022.5:p.Gly33Asp
ENST00000549336.6:c.98G>A MANE Select	ENSP00000449573.2:p.Gly33Asp
ENST00000229022.7:c.98G>A	ENSP00000229022.3:p.Gly33Asp
ENST00000395324.6:c.98G>A	ENSP00000378734.2:p.Gly33Asp
ENST00000546653.5:c.98G>A	ENSP00000448659.1:p.Gly33Asp
ENST00000547065.1:c.98G>A	ENSP00000449074.1:p.Gly33Asp
ENST00000548664.1:c.98G>A	ENSP00000450105.1:p.Gly33Asp
ENST00000549336.5:c.98G>A	ENSP00000449573.1:p.Gly33Asp
ENST00000550314.5:c.98G>A	ENSP00000449561.1:p.Gly33Asp
ENST00000550325.5:c.248G>A	ENSP00000447173.1:p.Gly83Asp
NM_000376.2:c.98G>A	NP_000367.1:p.Gly33Asp
NM_001017535.1:c.98G>A	NP_001017535.1:p.Gly33Asp
NM_001017536.1:c.248G>A	NP_001017536.1:p.Gly83Asp
XM_006719587.2:c.98G>A	XP_006719650.1:p.Gly33Asp
XM_011538720.1:c.98G>A	XP_011537022.1:p.Gly33Asp
NM_001364085.1:c.98G>A	NP_001351014.1:p.Gly33Asp
XM_006719587.3:c.98G>A	XP_006719650.1:p.Gly33Asp
XM_011538720.2:c.98G>A	XP_011537022.1:p.Gly33Asp
XM_024449178.1:c.167G>A	XP_024304946.1:p.Gly56Asp
NM_000376.3:c.98G>A MANE Select	NP_000367.1:p.Gly33Asp
NM_001017535.2:c.98G>A	NP_001017535.1:p.Gly33Asp
NM_001017536.2:c.248G>A	NP_001017536.1:p.Gly83Asp
NM_001364085.2:c.98G>A	NP_001351014.1:p.Gly33Asp
NM_001374661.1:c.98G>A	NP_001361590.1:p.Gly33Asp
NM_001374662.1:c.98G>A	NP_001361591.1:p.Gly33Asp