Canonical Allele Identifier: CA5581328

Gene: RGR

Linked Data

• ClinVar Variation Id: 2786291
• ClinVar RCV Id: RCV003666385
• dbSNP Id: rs774404884
• ExAC: 10:86007478 G / A
• gnomAD v2: 10-86007478-G-A
• gnomAD v3: 10-84247722-G-A
• gnomAD v4: 10-84247722-G-A
• MyVariant Identifiers: chr10:g.86007478G>A (hg19) ; chr10:g.84247722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247722G>A , CM000672.2:g.84247722G>A	GRCh38
NC_000010.10:g.86007478G>A , CM000672.1:g.86007478G>A	GRCh37
NC_000010.9:g.85997458G>A	NCBI36
NG_009106.1:g.7670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.211G>A	ENSP00000350823.5:p.Val71Ile
ENST00000359452.9:c.211G>A	ENSP00000352427.4:p.Val71Ile
ENST00000478727.6:c.*282G>A	ENSP00000498966.1:n.*282G>A
ENST00000483744.6:c.211G>A	ENSP00000498992.1:p.Val71Ile
ENST00000650682.1:c.-327G>A	ENSP00000498223.1:n.-327G>A
ENST00000650774.1:c.161G>A	ENSP00000498908.1:p.Arg54His
ENST00000651155.1:c.211G>A	ENSP00000499193.1:p.Val71Ile
ENST00000651237.1:c.-327G>A	ENSP00000498404.1:n.-327G>A
ENST00000652073.1:c.-327G>A	ENSP00000498800.1:n.-327G>A
ENST00000652092.2:c.211G>A MANE Select	ENSP00000498299.1:p.Val71Ile
ENST00000652122.1:c.211G>A	ENSP00000498917.1:p.Val71Ile
ENST00000652310.1:c.*139G>A	ENSP00000498927.1:n.*139G>A
ENST00000358110.6:c.211G>A	ENSP00000350823.5:p.Val71Ile
ENST00000359452.8:c.211G>A	ENSP00000352427.4:p.Val71Ile
ENST00000372092.3:c.161G>A	ENSP00000361164.3:p.Arg54His
ENST00000469446.5:n.249G>A
ENST00000478727.5:n.249G>A
ENST00000483660.5:n.108-1200G>A
ENST00000483744.5:n.18G>A
ENST00000483771.5:n.163G>A
NM_001012720.1:c.211G>A	NP_001012738.1:p.Val71Ile
NM_001012722.1:c.211G>A	NP_001012740.1:p.Val71Ile
NM_002921.3:c.211G>A	NP_002912.2:p.Val71Ile
XM_011540028.1:c.238G>A	XP_011538330.1:p.Val80Ile
XM_024448118.1:c.211G>A	XP_024303886.1:p.Val71Ile
XR_002957005.1:n.1561G>A
NM_001012720.2:c.211G>A MANE Select	NP_001012738.1:p.Val71Ile
NM_001012722.2:c.211G>A	NP_001012740.1:p.Val71Ile
NM_002921.4:c.211G>A	NP_002912.2:p.Val71Ile