Canonical Allele Identifier: CA384514248

Gene: VDR

Linked Data

• dbSNP Id: rs1169801766
• gnomAD v2: 12-48238666-T-C
• gnomAD v4: 12-47844883-T-C
• MyVariant Identifiers: chr12:g.48238666T>C (hg19) ; chr12:g.47844883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844883T>C , CM000674.2:g.47844883T>C	GRCh38
NC_000012.11:g.48238666T>C , CM000674.1:g.48238666T>C	GRCh37
NC_000012.10:g.46524933T>C	NCBI36
NG_008731.1:g.65149A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1147A>G	ENSP00000229022.5:p.Met383Val
ENST00000549336.6:c.1147A>G MANE Select	ENSP00000449573.2:p.Met383Val
ENST00000229022.7:c.1147A>G	ENSP00000229022.3:p.Met383Val
ENST00000395324.6:c.1147A>G	ENSP00000378734.2:p.Met383Val
ENST00000547065.1:c.*1149A>G	ENSP00000449074.1:n.*1149A>G
ENST00000549336.5:c.1147A>G	ENSP00000449573.1:p.Met383Val
ENST00000550325.5:c.1297A>G	ENSP00000447173.1:p.Met433Val
NM_000376.2:c.1147A>G	NP_000367.1:p.Met383Val
NM_001017535.1:c.1147A>G	NP_001017535.1:p.Met383Val
NM_001017536.1:c.1297A>G	NP_001017536.1:p.Met433Val
XM_006719587.2:c.1147A>G	XP_006719650.1:p.Met383Val
XM_011538720.1:c.1147A>G	XP_011537022.1:p.Met383Val
NM_001364085.1:c.1147A>G	NP_001351014.1:p.Met383Val
XM_006719587.3:c.1147A>G	XP_006719650.1:p.Met383Val
XM_011538720.2:c.1147A>G	XP_011537022.1:p.Met383Val
XM_024449178.1:c.1216A>G	XP_024304946.1:p.Met406Val
NM_000376.3:c.1147A>G MANE Select	NP_000367.1:p.Met383Val
NM_001017535.2:c.1147A>G	NP_001017535.1:p.Met383Val
NM_001017536.2:c.1297A>G	NP_001017536.1:p.Met433Val
NM_001364085.2:c.1147A>G	NP_001351014.1:p.Met383Val
NM_001374661.1:c.1147A>G	NP_001361590.1:p.Met383Val
NM_001374662.1:c.1147A>G	NP_001361591.1:p.Met383Val