Canonical Allele Identifier: CA2034408896
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844703T= , CM000674.2:g.47844703T= GRCh38
NC_000012.11:g.48238486T= , CM000674.1:g.48238486T= GRCh37
NC_000012.10:g.46524753T= NCBI36
NG_008731.1:g.65329A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000229022.9:c.1327A= ENSP00000229022.5:p.Arg443=
ENST00000549336.6:c.*43A= MANE Select ENSP00000449573.2:n.*43A=
ENST00000229022.7:c.*43A= ENSP00000229022.3:n.*43A=
ENST00000395324.6:c.*43A= ENSP00000378734.2:n.*43A=
ENST00000547065.1:c.*1329A= ENSP00000449074.1:n.*1329A=
ENST00000549336.5:c.*43A= ENSP00000449573.1:n.*43A=
ENST00000550325.5:c.*43A= ENSP00000447173.1:n.*43A=
NM_000376.2:c.*43A= NP_000367.1:n.*43A=
NM_001017535.1:c.*43A= NP_001017535.1:n.*43A=
NM_001017536.1:c.*43A= NP_001017536.1:n.*43A=
XM_006719587.2:c.*43A= XP_006719650.1:n.*43A=
XM_011538720.1:c.*43A= XP_011537022.1:n.*43A=
NM_001364085.1:c.1327A= NP_001351014.1:p.Arg443=
NM_000376.3:c.*43A= MANE Select NP_000367.1:n.*43A=
NM_001017535.2:c.*43A= NP_001017535.1:n.*43A=
NM_001017536.2:c.*43A= NP_001017536.1:n.*43A=
NM_001364085.2:c.1327A= NP_001351014.1:p.Arg443=
NM_001374661.1:c.*43A= NP_001361590.1:n.*43A=
NM_001374662.1:c.*43A= NP_001361591.1:n.*43A=