Canonical Allele Identifier: CA236476120

Gene: VDR

Linked Data

• dbSNP Id: rs150547173
• MyVariant Identifiers: chr12:g.47864022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47864022C>G , CM000674.2:g.47864022C>G	GRCh38
NC_000012.11:g.48257805C>G , CM000674.1:g.48257805C>G	GRCh37
NC_000012.10:g.46544072C>G	NCBI36
NG_008731.1:g.46010G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.277+1025G>C	ENSP00000229022.5:n.277+1025G>C
ENST00000549336.6:c.277+1025G>C MANE Select	ENSP00000449573.2:n.277+1025G>C
ENST00000229022.7:c.277+1025G>C	ENSP00000229022.3:n.277+1025G>C
ENST00000395324.6:c.277+1025G>C	ENSP00000378734.2:n.277+1025G>C
ENST00000546653.5:c.277+1025G>C	ENSP00000448659.1:n.277+1025G>C
ENST00000547065.1:c.*279+1025G>C	ENSP00000449074.1:n.*279+1025G>C
ENST00000548664.1:c.277+1025G>C	ENSP00000450105.1:n.277+1025G>C
ENST00000549336.5:c.277+1025G>C	ENSP00000449573.1:n.277+1025G>C
ENST00000550314.5:c.277+1025G>C	ENSP00000449561.1:n.277+1025G>C
ENST00000550325.5:c.427+1025G>C	ENSP00000447173.1:n.427+1025G>C
NM_000376.2:c.277+1025G>C	NP_000367.1:n.277+1025G>C
NM_001017535.1:c.277+1025G>C	NP_001017535.1:n.277+1025G>C
NM_001017536.1:c.427+1025G>C	NP_001017536.1:n.427+1025G>C
XM_006719587.2:c.277+1025G>C	XP_006719650.1:n.277+1025G>C
XM_011538720.1:c.277+1025G>C	XP_011537022.1:n.277+1025G>C
NM_001364085.1:c.277+1025G>C	NP_001351014.1:n.277+1025G>C
XM_006719587.3:c.277+1025G>C	XP_006719650.1:n.277+1025G>C
XM_011538720.2:c.277+1025G>C	XP_011537022.1:n.277+1025G>C
XM_024449178.1:c.346+1025G>C	XP_024304946.1:n.346+1025G>C
NM_000376.3:c.277+1025G>C MANE Select	NP_000367.1:n.277+1025G>C
NM_001017535.2:c.277+1025G>C	NP_001017535.1:n.277+1025G>C
NM_001017536.2:c.427+1025G>C	NP_001017536.1:n.427+1025G>C
NM_001364085.2:c.277+1025G>C	NP_001351014.1:n.277+1025G>C
NM_001374661.1:c.277+1025G>C	NP_001361590.1:n.277+1025G>C
NM_001374662.1:c.277+1025G>C	NP_001361591.1:n.277+1025G>C