Canonical Allele Identifier: CA6533762

Gene: VDR

Linked Data

• dbSNP Id: rs746794931
• ExAC: 12:48238753 C / T
• gnomAD v2: 12-48238753-C-T
• gnomAD v4: 12-47844970-C-T
• MyVariant Identifiers: chr12:g.48238753C>T (hg19) ; chr12:g.47844970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844970C>T , CM000674.2:g.47844970C>T	GRCh38
NC_000012.11:g.48238753C>T , CM000674.1:g.48238753C>T	GRCh37
NC_000012.10:g.46525020C>T	NCBI36
NG_008731.1:g.65062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1060G>A	ENSP00000229022.5:p.Ala354Thr
ENST00000549336.6:c.1060G>A MANE Select	ENSP00000449573.2:p.Ala354Thr
ENST00000229022.7:c.1060G>A	ENSP00000229022.3:p.Ala354Thr
ENST00000395324.6:c.1060G>A	ENSP00000378734.2:p.Ala354Thr
ENST00000547065.1:c.*1062G>A	ENSP00000449074.1:n.*1062G>A
ENST00000549336.5:c.1060G>A	ENSP00000449573.1:p.Ala354Thr
ENST00000550325.5:c.1210G>A	ENSP00000447173.1:p.Ala404Thr
NM_000376.2:c.1060G>A	NP_000367.1:p.Ala354Thr
NM_001017535.1:c.1060G>A	NP_001017535.1:p.Ala354Thr
NM_001017536.1:c.1210G>A	NP_001017536.1:p.Ala404Thr
XM_006719587.2:c.1060G>A	XP_006719650.1:p.Ala354Thr
XM_011538720.1:c.1060G>A	XP_011537022.1:p.Ala354Thr
NM_001364085.1:c.1060G>A	NP_001351014.1:p.Ala354Thr
XM_006719587.3:c.1060G>A	XP_006719650.1:p.Ala354Thr
XM_011538720.2:c.1060G>A	XP_011537022.1:p.Ala354Thr
XM_024449178.1:c.1129G>A	XP_024304946.1:p.Ala377Thr
NM_000376.3:c.1060G>A MANE Select	NP_000367.1:p.Ala354Thr
NM_001017535.2:c.1060G>A	NP_001017535.1:p.Ala354Thr
NM_001017536.2:c.1210G>A	NP_001017536.1:p.Ala404Thr
NM_001364085.2:c.1060G>A	NP_001351014.1:p.Ala354Thr
NM_001374661.1:c.1060G>A	NP_001361590.1:p.Ala354Thr
NM_001374662.1:c.1060G>A	NP_001361591.1:p.Ala354Thr