Canonical Allele Identifier: CA6533752

Gene: VDR

Linked Data

• ClinVar Variation Id: 882576
• ClinVar RCV Id: RCV001112343
• dbSNP Id: rs34189316
• ExAC: 12:48238715 G / A
• gnomAD v2: 12-48238715-G-A
• gnomAD v3: 12-47844932-G-A
• gnomAD v4: 12-47844932-G-A
• MyVariant Identifiers: chr12:g.48238715G>A (hg19) ; chr12:g.47844932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844932G>A , CM000674.2:g.47844932G>A	GRCh38
NC_000012.11:g.48238715G>A , CM000674.1:g.48238715G>A	GRCh37
NC_000012.10:g.46524982G>A	NCBI36
NG_008731.1:g.65100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1098C>T	ENSP00000229022.5:p.Tyr366=
ENST00000549336.6:c.1098C>T MANE Select	ENSP00000449573.2:p.Tyr366=
ENST00000229022.7:c.1098C>T	ENSP00000229022.3:p.Tyr366=
ENST00000395324.6:c.1098C>T	ENSP00000378734.2:p.Tyr366=
ENST00000547065.1:c.*1100C>T	ENSP00000449074.1:n.*1100C>T
ENST00000549336.5:c.1098C>T	ENSP00000449573.1:p.Tyr366=
ENST00000550325.5:c.1248C>T	ENSP00000447173.1:p.Tyr416=
NM_000376.2:c.1098C>T	NP_000367.1:p.Tyr366=
NM_001017535.1:c.1098C>T	NP_001017535.1:p.Tyr366=
NM_001017536.1:c.1248C>T	NP_001017536.1:p.Tyr416=
XM_006719587.2:c.1098C>T	XP_006719650.1:p.Tyr366=
XM_011538720.1:c.1098C>T	XP_011537022.1:p.Tyr366=
NM_001364085.1:c.1098C>T	NP_001351014.1:p.Tyr366=
XM_006719587.3:c.1098C>T	XP_006719650.1:p.Tyr366=
XM_011538720.2:c.1098C>T	XP_011537022.1:p.Tyr366=
XM_024449178.1:c.1167C>T	XP_024304946.1:p.Tyr389=
NM_000376.3:c.1098C>T MANE Select	NP_000367.1:p.Tyr366=
NM_001017535.2:c.1098C>T	NP_001017535.1:p.Tyr366=
NM_001017536.2:c.1248C>T	NP_001017536.1:p.Tyr416=
NM_001364085.2:c.1098C>T	NP_001351014.1:p.Tyr366=
NM_001374661.1:c.1098C>T	NP_001361590.1:p.Tyr366=
NM_001374662.1:c.1098C>T	NP_001361591.1:p.Tyr366=