Canonical Allele Identifier: CA2618496385

Gene: VDR

Linked Data

• gnomAD v4: 12-47844555-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844555G>T , CM000674.2:g.47844555G>T	GRCh38
NC_000012.11:g.48238338G>T , CM000674.1:g.48238338G>T	GRCh37
NC_000012.10:g.46524605G>T	NCBI36
NG_008731.1:g.65477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1475C>A	ENSP00000229022.5:p.Pro492Gln
ENST00000549336.6:c.*191C>A MANE Select	ENSP00000449573.2:n.*191C>A
ENST00000229022.7:c.*191C>A	ENSP00000229022.3:n.*191C>A
ENST00000395324.6:c.*191C>A	ENSP00000378734.2:n.*191C>A
ENST00000547065.1:c.*1477C>A	ENSP00000449074.1:n.*1477C>A
ENST00000549336.5:c.*191C>A	ENSP00000449573.1:n.*191C>A
ENST00000550325.5:c.*191C>A	ENSP00000447173.1:n.*191C>A
NM_000376.2:c.*191C>A	NP_000367.1:n.*191C>A
NM_001017535.1:c.*191C>A	NP_001017535.1:n.*191C>A
NM_001017536.1:c.*191C>A	NP_001017536.1:n.*191C>A
XM_006719587.2:c.*191C>A	XP_006719650.1:n.*191C>A
XM_011538720.1:c.*191C>A	XP_011537022.1:n.*191C>A
NM_001364085.1:c.1475C>A	NP_001351014.1:p.Pro492Gln
NM_000376.3:c.*191C>A MANE Select	NP_000367.1:n.*191C>A
NM_001017535.2:c.*191C>A	NP_001017535.1:n.*191C>A
NM_001017536.2:c.*191C>A	NP_001017536.1:n.*191C>A
NM_001364085.2:c.1475C>A	NP_001351014.1:p.Pro492Gln
NM_001374661.1:c.*191C>A	NP_001361590.1:n.*191C>A
NM_001374662.1:c.*191C>A	NP_001361591.1:n.*191C>A