Canonical Allele Identifier: CA1924470075

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247746C= , CM000672.2:g.84247746C=	GRCh38
NC_000010.10:g.86007502C= , CM000672.1:g.86007502C=	GRCh37
NC_000010.9:g.85997482C=	NCBI36
NG_009106.1:g.7694C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.235C=	ENSP00000350823.5:p.Arg79=
ENST00000359452.9:c.235C=	ENSP00000352427.4:p.Arg79=
ENST00000478727.6:c.*306C=	ENSP00000498966.1:n.*306C=
ENST00000483744.6:c.235C=	ENSP00000498992.1:p.Arg79=
ENST00000650682.1:c.-303C=	ENSP00000498223.1:n.-303C=
ENST00000650774.1:c.185C=	ENSP00000498908.1:p.Pro62=
ENST00000651155.1:c.235C=	ENSP00000499193.1:p.Arg79=
ENST00000651237.1:c.-303C=	ENSP00000498404.1:n.-303C=
ENST00000652073.1:c.-303C=	ENSP00000498800.1:n.-303C=
ENST00000652092.2:c.235C= MANE Select	ENSP00000498299.1:p.Arg79=
ENST00000652122.1:c.235C=	ENSP00000498917.1:p.Arg79=
ENST00000652310.1:c.*163C=	ENSP00000498927.1:n.*163C=
ENST00000358110.6:c.235C=	ENSP00000350823.5:p.Arg79=
ENST00000359452.8:c.235C=	ENSP00000352427.4:p.Arg79=
ENST00000372092.3:c.185C=	ENSP00000361164.3:p.Pro62=
ENST00000469446.5:n.273C=
ENST00000478727.5:n.273C=
ENST00000483660.5:n.108-1176C=
ENST00000483744.5:n.42C=
ENST00000483771.5:n.187C=
NM_001012720.1:c.235C=	NP_001012738.1:p.Arg79=
NM_001012722.1:c.235C=	NP_001012740.1:p.Arg79=
NM_002921.3:c.235C=	NP_002912.2:p.Arg79=
XM_011540028.1:c.262C=	XP_011538330.1:p.Arg88=
XM_024448118.1:c.235C=	XP_024303886.1:p.Arg79=
XR_002957005.1:n.1585C=
NM_001012720.2:c.235C= MANE Select	NP_001012738.1:p.Arg79=
NM_001012722.2:c.235C=	NP_001012740.1:p.Arg79=
NM_002921.4:c.235C=	NP_002912.2:p.Arg79=