Canonical Allele Identifier: CA13646510
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs2107301

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47861787G>A , CM000674.2:g.47861787G>A GRCh38
NC_000012.11:g.48255570G>A , CM000674.1:g.48255570G>A GRCh37
NC_000012.10:g.46541837G>A NCBI36
NG_008731.1:g.48245C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000229022.7:c.277+3260C>T ENSP00000229022.3:p.=
ENST00000395324.6:c.277+3260C>T ENSP00000378734.2:p.=
ENST00000546653.5:c.277+3260C>T ENSP00000448659.1:p.=
ENST00000547065.1:c.*279+3260C>T ENSP00000449074.1:p.=
ENST00000548664.1:c.277+3260C>T ENSP00000450105.1:p.=
ENST00000549336.5:c.277+3260C>T ENSP00000449573.1:p.=
ENST00000550314.5:c.277+3260C>T ENSP00000449561.1:p.=
ENST00000550325.5:c.427+3260C>T ENSP00000447173.1:p.=
NM_000376.2:c.277+3260C>T NP_000367.1:p.=
NM_001017535.1:c.277+3260C>T NP_001017535.1:p.=
NM_001017536.1:c.427+3260C>T NP_001017536.1:p.=
XM_006719587.2:c.277+3260C>T XP_006719650.1:p.=
XM_011538720.1:c.277+3260C>T XP_011537022.1:p.=
NM_001364085.1:c.277+3260C>T NP_001351014.1:p.=
XM_006719587.3:c.277+3260C>T XP_006719650.1:p.=
XM_011538720.2:c.277+3260C>T XP_011537022.1:p.=
XM_024449178.1:c.346+3260C>T XP_024304946.1:p.=
NM_000376.3:c.277+3260C>T MANE Select NP_000367.1:p.=
NM_001017535.2:c.277+3260C>T NP_001017535.1:p.=
NM_001017536.2:c.427+3260C>T NP_001017536.1:p.=
NM_001364085.2:c.277+3260C>T NP_001351014.1:p.=
NM_001374661.1:c.277+3260C>T NP_001361590.1:p.=
NM_001374662.1:c.277+3260C>T NP_001361591.1:p.=