Canonical Allele Identifier: CA384518554

Gene: VDR

Linked Data

• dbSNP Id: rs1269189957
• gnomAD v2: 12-48249566-C-A
• gnomAD v4: 12-47855783-C-A
• MyVariant Identifiers: chr12:g.48249566C>A (hg19) ; chr12:g.47855783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855783C>A , CM000674.2:g.47855783C>A	GRCh38
NC_000012.11:g.48249566C>A , CM000674.1:g.48249566C>A	GRCh37
NC_000012.10:g.46535833C>A	NCBI36
NG_008731.1:g.54249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.602G>T	ENSP00000229022.5:p.Ser201Ile
ENST00000549336.6:c.602G>T MANE Select	ENSP00000449573.2:p.Ser201Ile
ENST00000229022.7:c.602G>T	ENSP00000229022.3:p.Ser201Ile
ENST00000395324.6:c.602G>T	ENSP00000378734.2:p.Ser201Ile
ENST00000546653.5:c.602G>T	ENSP00000448659.1:p.Ser201Ile
ENST00000547065.1:c.*604G>T	ENSP00000449074.1:n.*604G>T
ENST00000549336.5:c.602G>T	ENSP00000449573.1:p.Ser201Ile
ENST00000550325.5:c.752G>T	ENSP00000447173.1:p.Ser251Ile
NM_000376.2:c.602G>T	NP_000367.1:p.Ser201Ile
NM_001017535.1:c.602G>T	NP_001017535.1:p.Ser201Ile
NM_001017536.1:c.752G>T	NP_001017536.1:p.Ser251Ile
XM_006719587.2:c.602G>T	XP_006719650.1:p.Ser201Ile
XM_011538720.1:c.602G>T	XP_011537022.1:p.Ser201Ile
NM_001364085.1:c.602G>T	NP_001351014.1:p.Ser201Ile
XM_006719587.3:c.602G>T	XP_006719650.1:p.Ser201Ile
XM_011538720.2:c.602G>T	XP_011537022.1:p.Ser201Ile
XM_024449178.1:c.671G>T	XP_024304946.1:p.Ser224Ile
NM_000376.3:c.602G>T MANE Select	NP_000367.1:p.Ser201Ile
NM_001017535.2:c.602G>T	NP_001017535.1:p.Ser201Ile
NM_001017536.2:c.752G>T	NP_001017536.1:p.Ser251Ile
NM_001364085.2:c.602G>T	NP_001351014.1:p.Ser201Ile
NM_001374661.1:c.602G>T	NP_001361590.1:p.Ser201Ile
NM_001374662.1:c.602G>T	NP_001361591.1:p.Ser201Ile