Canonical Allele Identifier: CA6533777

Gene: VDR

Linked Data

• ClinVar Variation Id: 1651519
• ClinVar RCV Id: RCV002151862
• dbSNP Id: rs376120023
• ExAC: 12:48238804 T / A
• gnomAD v2: 12-48238804-T-A
• gnomAD v3: 12-47845021-T-A
• gnomAD v4: 12-47845021-T-A
• MyVariant Identifiers: chr12:g.48238804T>A (hg19) ; chr12:g.47845021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47845021T>A , CM000674.2:g.47845021T>A	GRCh38
NC_000012.11:g.48238804T>A , CM000674.1:g.48238804T>A	GRCh37
NC_000012.10:g.46525071T>A	NCBI36
NG_008731.1:g.65011A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1025-16A>T	ENSP00000229022.5:n.1025-16A>T
ENST00000549336.6:c.1025-16A>T MANE Select	ENSP00000449573.2:n.1025-16A>T
ENST00000229022.7:c.1025-16A>T	ENSP00000229022.3:n.1025-16A>T
ENST00000395324.6:c.1025-16A>T	ENSP00000378734.2:n.1025-16A>T
ENST00000547065.1:c.*1027-16A>T	ENSP00000449074.1:n.*1027-16A>T
ENST00000549336.5:c.1025-16A>T	ENSP00000449573.1:n.1025-16A>T
ENST00000550325.5:c.1175-16A>T	ENSP00000447173.1:n.1175-16A>T
NM_000376.2:c.1025-16A>T	NP_000367.1:n.1025-16A>T
NM_001017535.1:c.1025-16A>T	NP_001017535.1:n.1025-16A>T
NM_001017536.1:c.1175-16A>T	NP_001017536.1:n.1175-16A>T
XM_006719587.2:c.1025-16A>T	XP_006719650.1:n.1025-16A>T
XM_011538720.1:c.1025-16A>T	XP_011537022.1:n.1025-16A>T
NM_001364085.1:c.1025-16A>T	NP_001351014.1:n.1025-16A>T
XM_006719587.3:c.1025-16A>T	XP_006719650.1:n.1025-16A>T
XM_011538720.2:c.1025-16A>T	XP_011537022.1:n.1025-16A>T
XM_024449178.1:c.1094-16A>T	XP_024304946.1:n.1094-16A>T
NM_000376.3:c.1025-16A>T MANE Select	NP_000367.1:n.1025-16A>T
NM_001017535.2:c.1025-16A>T	NP_001017535.1:n.1025-16A>T
NM_001017536.2:c.1175-16A>T	NP_001017536.1:n.1175-16A>T
NM_001364085.2:c.1025-16A>T	NP_001351014.1:n.1025-16A>T
NM_001374661.1:c.1025-16A>T	NP_001361590.1:n.1025-16A>T
NM_001374662.1:c.1025-16A>T	NP_001361591.1:n.1025-16A>T