Canonical Allele Identifier: CA384514641

Gene: VDR

Linked Data

• gnomAD v4: 12-47844999-G-T
• MyVariant Identifiers: chr12:g.48238782G>T (hg19) ; chr12:g.47844999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844999G>T , CM000674.2:g.47844999G>T	GRCh38
NC_000012.11:g.48238782G>T , CM000674.1:g.48238782G>T	GRCh37
NC_000012.10:g.46525049G>T	NCBI36
NG_008731.1:g.65033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1031C>A	ENSP00000229022.5:p.Pro344His
ENST00000549336.6:c.1031C>A MANE Select	ENSP00000449573.2:p.Pro344His
ENST00000229022.7:c.1031C>A	ENSP00000229022.3:p.Pro344His
ENST00000395324.6:c.1031C>A	ENSP00000378734.2:p.Pro344His
ENST00000547065.1:c.*1033C>A	ENSP00000449074.1:n.*1033C>A
ENST00000549336.5:c.1031C>A	ENSP00000449573.1:p.Pro344His
ENST00000550325.5:c.1181C>A	ENSP00000447173.1:p.Pro394His
NM_000376.2:c.1031C>A	NP_000367.1:p.Pro344His
NM_001017535.1:c.1031C>A	NP_001017535.1:p.Pro344His
NM_001017536.1:c.1181C>A	NP_001017536.1:p.Pro394His
XM_006719587.2:c.1031C>A	XP_006719650.1:p.Pro344His
XM_011538720.1:c.1031C>A	XP_011537022.1:p.Pro344His
NM_001364085.1:c.1031C>A	NP_001351014.1:p.Pro344His
XM_006719587.3:c.1031C>A	XP_006719650.1:p.Pro344His
XM_011538720.2:c.1031C>A	XP_011537022.1:p.Pro344His
XM_024449178.1:c.1100C>A	XP_024304946.1:p.Pro367His
NM_000376.3:c.1031C>A MANE Select	NP_000367.1:p.Pro344His
NM_001017535.2:c.1031C>A	NP_001017535.1:p.Pro344His
NM_001017536.2:c.1181C>A	NP_001017536.1:p.Pro394His
NM_001364085.2:c.1031C>A	NP_001351014.1:p.Pro344His
NM_001374661.1:c.1031C>A	NP_001361590.1:p.Pro344His
NM_001374662.1:c.1031C>A	NP_001361591.1:p.Pro344His