Canonical Allele Identifier: CA16606541
Gene: VDR HGNC NCBI

Linked Data

ClinVar Variation Id: 381603
ClinVar RCV Id: RCV000421461
dbSNP Id: rs1057521095

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47845003G>A , CM000674.2:g.47845003G>A GRCh38
NC_000012.11:g.48238786G>A , CM000674.1:g.48238786G>A GRCh37
NC_000012.10:g.46525053G>A NCBI36
NG_008731.1:g.65029C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000229022.9:c.1027C>T ENSP00000229022.5:p.Arg343Cys
ENST00000549336.6:c.1027C>T MANE Select ENSP00000449573.2:p.Arg343Cys
ENST00000229022.7:c.1027C>T ENSP00000229022.3:p.Arg343Cys
ENST00000395324.6:c.1027C>T ENSP00000378734.2:p.Arg343Cys
ENST00000547065.1:c.*1029C>T ENSP00000449074.1:n.*1029C>T
ENST00000549336.5:c.1027C>T ENSP00000449573.1:p.Arg343Cys
ENST00000550325.5:c.1177C>T ENSP00000447173.1:p.Arg393Cys
NM_000376.2:c.1027C>T NP_000367.1:p.Arg343Cys
NM_001017535.1:c.1027C>T NP_001017535.1:p.Arg343Cys
NM_001017536.1:c.1177C>T NP_001017536.1:p.Arg393Cys
XM_006719587.2:c.1027C>T XP_006719650.1:p.Arg343Cys
XM_011538720.1:c.1027C>T XP_011537022.1:p.Arg343Cys
NM_001364085.1:c.1027C>T NP_001351014.1:p.Arg343Cys
XM_006719587.3:c.1027C>T XP_006719650.1:p.Arg343Cys
XM_011538720.2:c.1027C>T XP_011537022.1:p.Arg343Cys
XM_024449178.1:c.1096C>T XP_024304946.1:p.Arg366Cys
NM_000376.3:c.1027C>T MANE Select NP_000367.1:p.Arg343Cys
NM_001017535.2:c.1027C>T NP_001017535.1:p.Arg343Cys
NM_001017536.2:c.1177C>T NP_001017536.1:p.Arg393Cys
NM_001364085.2:c.1027C>T NP_001351014.1:p.Arg343Cys
NM_001374661.1:c.1027C>T NP_001361590.1:p.Arg343Cys
NM_001374662.1:c.1027C>T NP_001361591.1:p.Arg343Cys