Canonical Allele Identifier: CA5581326

Gene: RGR

Linked Data

• ClinVar Variation Id: 3002441
• ClinVar RCV Id: RCV003865568
• dbSNP Id: rs868505157
• ExAC: 10:86007477 C / T
• gnomAD v2: 10-86007477-C-T
• gnomAD v4: 10-84247721-C-T
• MyVariant Identifiers: chr10:g.86007477C>T (hg19) ; chr10:g.86007477_86007478delinsTG (hg19) ; chr10:g.84247721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247721C>T , CM000672.2:g.84247721C>T	GRCh38
NC_000010.10:g.86007477C>T , CM000672.1:g.86007477C>T	GRCh37
NC_000010.9:g.85997457C>T	NCBI36
NG_009106.1:g.7669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.210C>T	ENSP00000350823.5:p.Leu70=
ENST00000359452.9:c.210C>T	ENSP00000352427.4:p.Leu70=
ENST00000478727.6:c.*281C>T	ENSP00000498966.1:n.*281C>T
ENST00000483744.6:c.210C>T	ENSP00000498992.1:p.Leu70=
ENST00000650682.1:c.-328C>T	ENSP00000498223.1:n.-328C>T
ENST00000650774.1:c.160C>T	ENSP00000498908.1:p.Arg54Cys
ENST00000651155.1:c.210C>T	ENSP00000499193.1:p.Leu70=
ENST00000651237.1:c.-328C>T	ENSP00000498404.1:n.-328C>T
ENST00000652073.1:c.-328C>T	ENSP00000498800.1:n.-328C>T
ENST00000652092.2:c.210C>T MANE Select	ENSP00000498299.1:p.Leu70=
ENST00000652122.1:c.210C>T	ENSP00000498917.1:p.Leu70=
ENST00000652310.1:c.*138C>T	ENSP00000498927.1:n.*138C>T
ENST00000358110.6:c.210C>T	ENSP00000350823.5:p.Leu70=
ENST00000359452.8:c.210C>T	ENSP00000352427.4:p.Leu70=
ENST00000372092.3:c.160C>T	ENSP00000361164.3:p.Arg54Cys
ENST00000469446.5:n.248C>T
ENST00000478727.5:n.248C>T
ENST00000483660.5:n.108-1201C>T
ENST00000483744.5:n.17C>T
ENST00000483771.5:n.162C>T
NM_001012720.1:c.210C>T	NP_001012738.1:p.Leu70=
NM_001012722.1:c.210C>T	NP_001012740.1:p.Leu70=
NM_002921.3:c.210C>T	NP_002912.2:p.Leu70=
XM_011540028.1:c.237C>T	XP_011538330.1:p.Leu79=
XM_024448118.1:c.210C>T	XP_024303886.1:p.Leu70=
XR_002957005.1:n.1560C>T
NM_001012720.2:c.210C>T MANE Select	NP_001012738.1:p.Leu70=
NM_001012722.2:c.210C>T	NP_001012740.1:p.Leu70=
NM_002921.4:c.210C>T	NP_002912.2:p.Leu70=