Canonical Allele Identifier: CA2034426019

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47875627A= , CM000674.2:g.47875627A=	GRCh38
NC_000012.11:g.48269410A= , CM000674.1:g.48269410A=	GRCh37
NC_000012.10:g.46555677A=	NCBI36
NG_008731.1:g.34405T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000376.3:c.146+3341T= MANE Select	NP_000367.1:n.146+3341T=
ENST00000549336.6:c.146+3341T= MANE Select	ENSP00000449573.2:n.146+3341T=
NM_000376.2:c.146+3341T=	NP_000367.1:n.146+3341T=
NM_001017535.1:c.146+3341T=	NP_001017535.1:n.146+3341T=
NM_001017535.2:c.146+3341T=	NP_001017535.1:n.146+3341T=
NM_001017536.1:c.296+3341T=	NP_001017536.1:n.296+3341T=
NM_001017536.2:c.296+3341T=	NP_001017536.1:n.296+3341T=
NM_001364085.1:c.146+3341T=	NP_001351014.1:n.146+3341T=
NM_001364085.2:c.146+3341T=	NP_001351014.1:n.146+3341T=
NM_001374661.1:c.146+3341T=	NP_001361590.1:n.146+3341T=
NM_001374662.1:c.146+3341T=	NP_001361591.1:n.146+3341T=
ENST00000229022.7:c.146+3341T=	ENSP00000229022.3:n.146+3341T=
ENST00000229022.9:c.146+3341T=	ENSP00000229022.5:n.146+3341T=
ENST00000395324.6:c.146+3341T=	ENSP00000378734.2:n.146+3341T=
ENST00000546653.5:c.146+3341T=	ENSP00000448659.1:n.146+3341T=
ENST00000547065.1:c.*148+3189T=	ENSP00000449074.1:n.*148+3189T=
ENST00000548664.1:c.146+3341T=	ENSP00000450105.1:n.146+3341T=
ENST00000549336.5:c.146+3341T=	ENSP00000449573.1:n.146+3341T=
ENST00000550314.5:c.146+3341T=	ENSP00000449561.1:n.146+3341T=
ENST00000550325.5:c.296+3341T=	ENSP00000447173.1:n.296+3341T=
XM_006719587.2:c.146+3341T=	XP_006719650.1:n.146+3341T=
XM_006719587.3:c.146+3341T=	XP_006719650.1:n.146+3341T=
XM_011538720.1:c.146+3341T=	XP_011537022.1:n.146+3341T=
XM_011538720.2:c.146+3341T=	XP_011537022.1:n.146+3341T=
XM_024449178.1:c.215+3341T=	XP_024304946.1:n.215+3341T=