Canonical Allele Identifier: CA384513668
Gene: VDR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844780A>C , CM000674.2:g.47844780A>C GRCh38
NC_000012.11:g.48238563A>C , CM000674.1:g.48238563A>C GRCh37
NC_000012.10:g.46524830A>C NCBI36
NG_008731.1:g.65252T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229022.9:c.1250T>G ENSP00000229022.5:p.Leu417Arg
ENST00000549336.6:c.1250T>G MANE Select ENSP00000449573.2:p.Leu417Arg
ENST00000229022.7:c.1250T>G ENSP00000229022.3:p.Leu417Arg
ENST00000395324.6:c.1250T>G ENSP00000378734.2:p.Leu417Arg
ENST00000547065.1:c.*1252T>G ENSP00000449074.1:n.*1252T>G
ENST00000549336.5:c.1250T>G ENSP00000449573.1:p.Leu417Arg
ENST00000550325.5:c.1400T>G ENSP00000447173.1:p.Leu467Arg
NM_000376.2:c.1250T>G NP_000367.1:p.Leu417Arg
NM_001017535.1:c.1250T>G NP_001017535.1:p.Leu417Arg
NM_001017536.1:c.1400T>G NP_001017536.1:p.Leu467Arg
XM_006719587.2:c.1250T>G XP_006719650.1:p.Leu417Arg
XM_011538720.1:c.1250T>G XP_011537022.1:p.Leu417Arg
NM_001364085.1:c.1250T>G NP_001351014.1:p.Leu417Arg
XM_006719587.3:c.1250T>G XP_006719650.1:p.Leu417Arg
XM_011538720.2:c.1250T>G XP_011537022.1:p.Leu417Arg
XM_024449178.1:c.1319T>G XP_024304946.1:p.Leu440Arg
NM_000376.3:c.1250T>G MANE Select NP_000367.1:p.Leu417Arg
NM_001017535.2:c.1250T>G NP_001017535.1:p.Leu417Arg
NM_001017536.2:c.1400T>G NP_001017536.1:p.Leu467Arg
NM_001364085.2:c.1250T>G NP_001351014.1:p.Leu417Arg
NM_001374661.1:c.1250T>G NP_001361590.1:p.Leu417Arg
NM_001374662.1:c.1250T>G NP_001361591.1:p.Leu417Arg