Canonical Allele Identifier: CA2034437677
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47892173A= , CM000674.2:g.47892173A= GRCh38
NC_000012.11:g.48285956A= , CM000674.1:g.48285956A= GRCh37
NC_000012.10:g.46572223A= NCBI36
NG_008731.1:g.17859T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9399T= MANE Select ENSP00000449573.2:n.-83-9399T=
ENST00000229022.7:c.-84+7664T= ENSP00000229022.3:n.-84+7664T=
ENST00000395324.6:c.-83-9399T= ENSP00000378734.2:n.-83-9399T=
ENST00000546653.5:c.-3+7664T= ENSP00000448659.1:n.-3+7664T=
ENST00000547065.1:c.-3+12782T= ENSP00000449074.1:n.-3+12782T=
ENST00000548664.1:c.-84+7664T= ENSP00000450105.1:n.-84+7664T=
ENST00000549336.5:c.-83-9399T= ENSP00000449573.1:n.-83-9399T=
ENST00000550325.5:c.68-9399T= ENSP00000447173.1:n.68-9399T=
NM_000376.2:c.-83-9399T= NP_000367.1:n.-83-9399T=
NM_001017535.1:c.-84+7664T= NP_001017535.1:n.-84+7664T=
NM_001017536.1:c.68-9399T= NP_001017536.1:n.68-9399T=
XM_006719587.2:c.-3+12782T= XP_006719650.1:n.-3+12782T=
XM_011538720.1:c.-3+7664T= XP_011537022.1:n.-3+7664T=
NM_001364085.1:c.-83-9399T= NP_001351014.1:n.-83-9399T=
XM_006719587.3:c.-3+12782T= XP_006719650.1:n.-3+12782T=
XM_011538720.2:c.-3+7664T= XP_011537022.1:n.-3+7664T=
XM_024449178.1:c.67+12391T= XP_024304946.1:n.67+12391T=
NM_000376.3:c.-83-9399T= MANE Select NP_000367.1:n.-83-9399T=
NM_001017535.2:c.-84+7664T= NP_001017535.1:n.-84+7664T=
NM_001017536.2:c.68-9399T= NP_001017536.1:n.68-9399T=
NM_001364085.2:c.-83-9399T= NP_001351014.1:n.-83-9399T=
NM_001374661.1:c.-3+7664T= NP_001361590.1:n.-3+7664T=
NM_001374662.1:c.-3+12782T= NP_001361591.1:n.-3+12782T=