Canonical Allele Identifier: CA689458572

Gene: VDR

Linked Data

• dbSNP Id: rs1208152571
• gnomAD v2: 12-48285932-T-G
• gnomAD v3: 12-47892149-T-G
• gnomAD v4: 12-47892149-T-G
• MyVariant Identifiers: chr12:g.48285932T>G (hg19) ; chr12:g.47892149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47892149T>G , CM000674.2:g.47892149T>G	GRCh38
NC_000012.11:g.48285932T>G , CM000674.1:g.48285932T>G	GRCh37
NC_000012.10:g.46572199T>G	NCBI36
NG_008731.1:g.17883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9375A>C MANE Select	ENSP00000449573.2:n.-83-9375A>C
ENST00000229022.7:c.-84+7688A>C	ENSP00000229022.3:n.-84+7688A>C
ENST00000395324.6:c.-83-9375A>C	ENSP00000378734.2:n.-83-9375A>C
ENST00000546653.5:c.-3+7688A>C	ENSP00000448659.1:n.-3+7688A>C
ENST00000547065.1:c.-3+12806A>C	ENSP00000449074.1:n.-3+12806A>C
ENST00000548664.1:c.-84+7688A>C	ENSP00000450105.1:n.-84+7688A>C
ENST00000549336.5:c.-83-9375A>C	ENSP00000449573.1:n.-83-9375A>C
ENST00000550325.5:c.68-9375A>C	ENSP00000447173.1:n.68-9375A>C
NM_000376.2:c.-83-9375A>C	NP_000367.1:n.-83-9375A>C
NM_001017535.1:c.-84+7688A>C	NP_001017535.1:n.-84+7688A>C
NM_001017536.1:c.68-9375A>C	NP_001017536.1:n.68-9375A>C
XM_006719587.2:c.-3+12806A>C	XP_006719650.1:n.-3+12806A>C
XM_011538720.1:c.-3+7688A>C	XP_011537022.1:n.-3+7688A>C
NM_001364085.1:c.-83-9375A>C	NP_001351014.1:n.-83-9375A>C
XM_006719587.3:c.-3+12806A>C	XP_006719650.1:n.-3+12806A>C
XM_011538720.2:c.-3+7688A>C	XP_011537022.1:n.-3+7688A>C
XM_024449178.1:c.67+12415A>C	XP_024304946.1:n.67+12415A>C
NM_000376.3:c.-83-9375A>C MANE Select	NP_000367.1:n.-83-9375A>C
NM_001017535.2:c.-84+7688A>C	NP_001017535.1:n.-84+7688A>C
NM_001017536.2:c.68-9375A>C	NP_001017536.1:n.68-9375A>C
NM_001364085.2:c.-83-9375A>C	NP_001351014.1:n.-83-9375A>C
NM_001374661.1:c.-3+7688A>C	NP_001361590.1:n.-3+7688A>C
NM_001374662.1:c.-3+12806A>C	NP_001361591.1:n.-3+12806A>C