Canonical Allele Identifier: CA384518537

Gene: VDR

Linked Data

• ClinVar Variation Id: 1387284
• ClinVar RCV Id: RCV001875527
• dbSNP Id: rs1357475598
• gnomAD v2: 12-48249558-T-G
• MyVariant Identifiers: chr12:g.48249558T>G (hg19) ; chr12:g.47855775T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855775T>G , CM000674.2:g.47855775T>G	GRCh38
NC_000012.11:g.48249558T>G , CM000674.1:g.48249558T>G	GRCh37
NC_000012.10:g.46535825T>G	NCBI36
NG_008731.1:g.54257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.610A>C	ENSP00000229022.5:p.Asn204His
ENST00000549336.6:c.610A>C MANE Select	ENSP00000449573.2:p.Asn204His
ENST00000229022.7:c.610A>C	ENSP00000229022.3:p.Asn204His
ENST00000395324.6:c.610A>C	ENSP00000378734.2:p.Asn204His
ENST00000546653.5:c.610A>C	ENSP00000448659.1:p.Asn204His
ENST00000547065.1:c.*612A>C	ENSP00000449074.1:n.*612A>C
ENST00000549336.5:c.610A>C	ENSP00000449573.1:p.Asn204His
ENST00000550325.5:c.760A>C	ENSP00000447173.1:p.Asn254His
NM_000376.2:c.610A>C	NP_000367.1:p.Asn204His
NM_001017535.1:c.610A>C	NP_001017535.1:p.Asn204His
NM_001017536.1:c.760A>C	NP_001017536.1:p.Asn254His
XM_006719587.2:c.610A>C	XP_006719650.1:p.Asn204His
XM_011538720.1:c.610A>C	XP_011537022.1:p.Asn204His
NM_001364085.1:c.610A>C	NP_001351014.1:p.Asn204His
XM_006719587.3:c.610A>C	XP_006719650.1:p.Asn204His
XM_011538720.2:c.610A>C	XP_011537022.1:p.Asn204His
XM_024449178.1:c.679A>C	XP_024304946.1:p.Asn227His
NM_000376.3:c.610A>C MANE Select	NP_000367.1:p.Asn204His
NM_001017535.2:c.610A>C	NP_001017535.1:p.Asn204His
NM_001017536.2:c.760A>C	NP_001017536.1:p.Asn254His
NM_001364085.2:c.610A>C	NP_001351014.1:p.Asn204His
NM_001374661.1:c.610A>C	NP_001361590.1:p.Asn204His
NM_001374662.1:c.610A>C	NP_001361591.1:p.Asn204His