Canonical Allele Identifier: CA2034418279
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47865106C= , CM000674.2:g.47865106C= GRCh38
NC_000012.11:g.48258889C= , CM000674.1:g.48258889C= GRCh37
NC_000012.10:g.46545156C= NCBI36
NG_008731.1:g.44926G=

Transcript Alleles

HGVS Amino-acid Change
NM_000376.3:c.218G= MANE Select NP_000367.1:p.Arg73=
ENST00000549336.6:c.218G= MANE Select ENSP00000449573.2:p.Arg73=
NM_000376.2:c.218G= NP_000367.1:p.Arg73=
NM_001017535.1:c.218G= NP_001017535.1:p.Arg73=
NM_001017535.2:c.218G= NP_001017535.1:p.Arg73=
NM_001017536.1:c.368G= NP_001017536.1:p.Arg123=
NM_001017536.2:c.368G= NP_001017536.1:p.Arg123=
NM_001364085.1:c.218G= NP_001351014.1:p.Arg73=
NM_001364085.2:c.218G= NP_001351014.1:p.Arg73=
NM_001374661.1:c.218G= NP_001361590.1:p.Arg73=
NM_001374662.1:c.218G= NP_001361591.1:p.Arg73=
ENST00000229022.7:c.218G= ENSP00000229022.3:p.Arg73=
ENST00000229022.9:c.218G= ENSP00000229022.5:p.Arg73=
ENST00000395324.6:c.218G= ENSP00000378734.2:p.Arg73=
ENST00000546653.5:c.218G= ENSP00000448659.1:p.Arg73=
ENST00000547065.1:c.*220G= ENSP00000449074.1:n.*220G=
ENST00000548664.1:c.218G= ENSP00000450105.1:p.Arg73=
ENST00000549336.5:c.218G= ENSP00000449573.1:p.Arg73=
ENST00000550314.5:c.218G= ENSP00000449561.1:p.Arg73=
ENST00000550325.5:c.368G= ENSP00000447173.1:p.Arg123=
XM_006719587.2:c.218G= XP_006719650.1:p.Arg73=
XM_006719587.3:c.218G= XP_006719650.1:p.Arg73=
XM_011538720.1:c.218G= XP_011537022.1:p.Arg73=
XM_011538720.2:c.218G= XP_011537022.1:p.Arg73=
XM_024449178.1:c.287G= XP_024304946.1:p.Arg96=