Canonical Allele Identifier: CA605231294

Gene: VDR

Linked Data

• dbSNP Id: rs1267294460
• gnomAD v2: 12-48238392-G-T
• gnomAD v3: 12-47844609-G-T
• gnomAD v4: 12-47844609-G-T
• MyVariant Identifiers: chr12:g.48238392G>T (hg19) ; chr12:g.47844609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844609G>T , CM000674.2:g.47844609G>T	GRCh38
NC_000012.11:g.48238392G>T , CM000674.1:g.48238392G>T	GRCh37
NC_000012.10:g.46524659G>T	NCBI36
NG_008731.1:g.65423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1421C>A	ENSP00000229022.5:p.Thr474Asn
ENST00000549336.6:c.*137C>A MANE Select	ENSP00000449573.2:n.*137C>A
ENST00000229022.7:c.*137C>A	ENSP00000229022.3:n.*137C>A
ENST00000395324.6:c.*137C>A	ENSP00000378734.2:n.*137C>A
ENST00000547065.1:c.*1423C>A	ENSP00000449074.1:n.*1423C>A
ENST00000549336.5:c.*137C>A	ENSP00000449573.1:n.*137C>A
ENST00000550325.5:c.*137C>A	ENSP00000447173.1:n.*137C>A
NM_000376.2:c.*137C>A	NP_000367.1:n.*137C>A
NM_001017535.1:c.*137C>A	NP_001017535.1:n.*137C>A
NM_001017536.1:c.*137C>A	NP_001017536.1:n.*137C>A
XM_006719587.2:c.*137C>A	XP_006719650.1:n.*137C>A
XM_011538720.1:c.*137C>A	XP_011537022.1:n.*137C>A
NM_001364085.1:c.1421C>A	NP_001351014.1:p.Thr474Asn
NM_000376.3:c.*137C>A MANE Select	NP_000367.1:n.*137C>A
NM_001017535.2:c.*137C>A	NP_001017535.1:n.*137C>A
NM_001017536.2:c.*137C>A	NP_001017536.1:n.*137C>A
NM_001364085.2:c.1421C>A	NP_001351014.1:p.Thr474Asn
NM_001374661.1:c.*137C>A	NP_001361590.1:n.*137C>A
NM_001374662.1:c.*137C>A	NP_001361591.1:n.*137C>A