Canonical Allele Identifier: CA2726270229
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs2137217110

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47884396A>G , CM000674.2:g.47884396A>G GRCh38
NC_000012.11:g.48278179A>G , CM000674.1:g.48278179A>G GRCh37
NC_000012.10:g.46564446A>G NCBI36
NG_008731.1:g.25636T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000549336.6:c.-83-1622T>C MANE Select ENSP00000449573.2:n.-83-1622T>C
ENST00000229022.7:c.-83-1622T>C ENSP00000229022.3:n.-83-1622T>C
ENST00000395324.6:c.-83-1622T>C ENSP00000378734.2:n.-83-1622T>C
ENST00000546653.5:c.-2-5281T>C ENSP00000448659.1:n.-2-5281T>C
ENST00000547065.1:c.-2-5281T>C ENSP00000449074.1:n.-2-5281T>C
ENST00000548664.1:c.-83-1622T>C ENSP00000450105.1:n.-83-1622T>C
ENST00000549336.5:c.-83-1622T>C ENSP00000449573.1:n.-83-1622T>C
ENST00000550325.5:c.68-1622T>C ENSP00000447173.1:n.68-1622T>C
NM_000376.2:c.-83-1622T>C NP_000367.1:n.-83-1622T>C
NM_001017535.1:c.-83-1622T>C NP_001017535.1:n.-83-1622T>C
NM_001017536.1:c.68-1622T>C NP_001017536.1:n.68-1622T>C
XM_006719587.2:c.-2-5281T>C XP_006719650.1:n.-2-5281T>C
XM_011538720.1:c.-2-5281T>C XP_011537022.1:n.-2-5281T>C
NM_001364085.1:c.-83-1622T>C NP_001351014.1:n.-83-1622T>C
XM_006719587.3:c.-2-5281T>C XP_006719650.1:n.-2-5281T>C
XM_011538720.2:c.-2-5281T>C XP_011537022.1:n.-2-5281T>C
XM_024449178.1:c.68-5281T>C XP_024304946.1:n.68-5281T>C
NM_000376.3:c.-83-1622T>C MANE Select NP_000367.1:n.-83-1622T>C
NM_001017535.2:c.-83-1622T>C NP_001017535.1:n.-83-1622T>C
NM_001017536.2:c.68-1622T>C NP_001017536.1:n.68-1622T>C
NM_001364085.2:c.-83-1622T>C NP_001351014.1:n.-83-1622T>C
NM_001374661.1:c.-2-5281T>C NP_001361590.1:n.-2-5281T>C
NM_001374662.1:c.-2-5281T>C NP_001361591.1:n.-2-5281T>C