Canonical Allele Identifier: CA605231309

Gene: VDR

Linked Data

• dbSNP Id: rs371654262
• gnomAD v2: 12-48238513-C-G
• gnomAD v4: 12-47844730-C-G
• MyVariant Identifiers: chr12:g.48238513C>G (hg19) ; chr12:g.47844730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844730C>G , CM000674.2:g.47844730C>G	GRCh38
NC_000012.11:g.48238513C>G , CM000674.1:g.48238513C>G	GRCh37
NC_000012.10:g.46524780C>G	NCBI36
NG_008731.1:g.65302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1300G>C	ENSP00000229022.5:p.Ala434Pro
ENST00000549336.6:c.*16G>C MANE Select	ENSP00000449573.2:n.*16G>C
ENST00000229022.7:c.*16G>C	ENSP00000229022.3:n.*16G>C
ENST00000395324.6:c.*16G>C	ENSP00000378734.2:n.*16G>C
ENST00000547065.1:c.*1302G>C	ENSP00000449074.1:n.*1302G>C
ENST00000549336.5:c.*16G>C	ENSP00000449573.1:n.*16G>C
ENST00000550325.5:c.*16G>C	ENSP00000447173.1:n.*16G>C
NM_000376.2:c.*16G>C	NP_000367.1:n.*16G>C
NM_001017535.1:c.*16G>C	NP_001017535.1:n.*16G>C
NM_001017536.1:c.*16G>C	NP_001017536.1:n.*16G>C
XM_006719587.2:c.*16G>C	XP_006719650.1:n.*16G>C
XM_011538720.1:c.*16G>C	XP_011537022.1:n.*16G>C
NM_001364085.1:c.1300G>C	NP_001351014.1:p.Ala434Pro
NM_000376.3:c.*16G>C MANE Select	NP_000367.1:n.*16G>C
NM_001017535.2:c.*16G>C	NP_001017535.1:n.*16G>C
NM_001017536.2:c.*16G>C	NP_001017536.1:n.*16G>C
NM_001364085.2:c.1300G>C	NP_001351014.1:p.Ala434Pro
NM_001374661.1:c.*16G>C	NP_001361590.1:n.*16G>C
NM_001374662.1:c.*16G>C	NP_001361591.1:n.*16G>C