Canonical Allele Identifier: CA384518580

Gene: VDR

Linked Data

• MyVariant Identifiers: chr12:g.48249577C>A (hg19) ; chr12:g.47855794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855794C>A , CM000674.2:g.47855794C>A	GRCh38
NC_000012.11:g.48249577C>A , CM000674.1:g.48249577C>A	GRCh37
NC_000012.10:g.46535844C>A	NCBI36
NG_008731.1:g.54238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.591G>T	ENSP00000229022.5:p.Met197Ile
ENST00000549336.6:c.591G>T MANE Select	ENSP00000449573.2:p.Met197Ile
ENST00000229022.7:c.591G>T	ENSP00000229022.3:p.Met197Ile
ENST00000395324.6:c.591G>T	ENSP00000378734.2:p.Met197Ile
ENST00000546653.5:c.591G>T	ENSP00000448659.1:p.Met197Ile
ENST00000547065.1:c.*593G>T	ENSP00000449074.1:n.*593G>T
ENST00000549336.5:c.591G>T	ENSP00000449573.1:p.Met197Ile
ENST00000550325.5:c.741G>T	ENSP00000447173.1:p.Met247Ile
NM_000376.2:c.591G>T	NP_000367.1:p.Met197Ile
NM_001017535.1:c.591G>T	NP_001017535.1:p.Met197Ile
NM_001017536.1:c.741G>T	NP_001017536.1:p.Met247Ile
XM_006719587.2:c.591G>T	XP_006719650.1:p.Met197Ile
XM_011538720.1:c.591G>T	XP_011537022.1:p.Met197Ile
NM_001364085.1:c.591G>T	NP_001351014.1:p.Met197Ile
XM_006719587.3:c.591G>T	XP_006719650.1:p.Met197Ile
XM_011538720.2:c.591G>T	XP_011537022.1:p.Met197Ile
XM_024449178.1:c.660G>T	XP_024304946.1:p.Met220Ile
NM_000376.3:c.591G>T MANE Select	NP_000367.1:p.Met197Ile
NM_001017535.2:c.591G>T	NP_001017535.1:p.Met197Ile
NM_001017536.2:c.741G>T	NP_001017536.1:p.Met247Ile
NM_001364085.2:c.591G>T	NP_001351014.1:p.Met197Ile
NM_001374661.1:c.591G>T	NP_001361590.1:p.Met197Ile
NM_001374662.1:c.591G>T	NP_001361591.1:p.Met197Ile