Canonical Allele Identifier: CA384518528

Gene: VDR

Linked Data

• ClinVar Variation Id: 2267460
• ClinVar RCV Id: RCV002821543
• dbSNP Id: rs1945473429
• MyVariant Identifiers: chr12:g.48249555G>C (hg19) ; chr12:g.47855772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855772G>C , CM000674.2:g.47855772G>C	GRCh38
NC_000012.11:g.48249555G>C , CM000674.1:g.48249555G>C	GRCh37
NC_000012.10:g.46535822G>C	NCBI36
NG_008731.1:g.54260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.613C>G	ENSP00000229022.5:p.Leu205Val
ENST00000549336.6:c.613C>G MANE Select	ENSP00000449573.2:p.Leu205Val
ENST00000229022.7:c.613C>G	ENSP00000229022.3:p.Leu205Val
ENST00000395324.6:c.613C>G	ENSP00000378734.2:p.Leu205Val
ENST00000546653.5:c.613C>G	ENSP00000448659.1:p.Leu205Val
ENST00000547065.1:c.*615C>G	ENSP00000449074.1:n.*615C>G
ENST00000549336.5:c.613C>G	ENSP00000449573.1:p.Leu205Val
ENST00000550325.5:c.763C>G	ENSP00000447173.1:p.Leu255Val
NM_000376.2:c.613C>G	NP_000367.1:p.Leu205Val
NM_001017535.1:c.613C>G	NP_001017535.1:p.Leu205Val
NM_001017536.1:c.763C>G	NP_001017536.1:p.Leu255Val
XM_006719587.2:c.613C>G	XP_006719650.1:p.Leu205Val
XM_011538720.1:c.613C>G	XP_011537022.1:p.Leu205Val
NM_001364085.1:c.613C>G	NP_001351014.1:p.Leu205Val
XM_006719587.3:c.613C>G	XP_006719650.1:p.Leu205Val
XM_011538720.2:c.613C>G	XP_011537022.1:p.Leu205Val
XM_024449178.1:c.682C>G	XP_024304946.1:p.Leu228Val
NM_000376.3:c.613C>G MANE Select	NP_000367.1:p.Leu205Val
NM_001017535.2:c.613C>G	NP_001017535.1:p.Leu205Val
NM_001017536.2:c.763C>G	NP_001017536.1:p.Leu255Val
NM_001364085.2:c.613C>G	NP_001351014.1:p.Leu205Val
NM_001374661.1:c.613C>G	NP_001361590.1:p.Leu205Val
NM_001374662.1:c.613C>G	NP_001361591.1:p.Leu205Val