Canonical Allele Identifier: CA1924470063

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247727A= , CM000672.2:g.84247727A=	GRCh38
NC_000010.10:g.86007483A= , CM000672.1:g.86007483A=	GRCh37
NC_000010.9:g.85997463A=	NCBI36
NG_009106.1:g.7675A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.216A=	ENSP00000350823.5:p.Ala72=
ENST00000359452.9:c.216A=	ENSP00000352427.4:p.Ala72=
ENST00000478727.6:c.*287A=	ENSP00000498966.1:n.*287A=
ENST00000483744.6:c.216A=	ENSP00000498992.1:p.Ala72=
ENST00000650682.1:c.-322A=	ENSP00000498223.1:n.-322A=
ENST00000650774.1:c.166A=	ENSP00000498908.1:p.Ser56=
ENST00000651155.1:c.216A=	ENSP00000499193.1:p.Ala72=
ENST00000651237.1:c.-322A=	ENSP00000498404.1:n.-322A=
ENST00000652073.1:c.-322A=	ENSP00000498800.1:n.-322A=
ENST00000652092.2:c.216A= MANE Select	ENSP00000498299.1:p.Ala72=
ENST00000652122.1:c.216A=	ENSP00000498917.1:p.Ala72=
ENST00000652310.1:c.*144A=	ENSP00000498927.1:n.*144A=
ENST00000358110.6:c.216A=	ENSP00000350823.5:p.Ala72=
ENST00000359452.8:c.216A=	ENSP00000352427.4:p.Ala72=
ENST00000372092.3:c.166A=	ENSP00000361164.3:p.Ser56=
ENST00000469446.5:n.254A=
ENST00000478727.5:n.254A=
ENST00000483660.5:n.108-1195A=
ENST00000483744.5:n.23A=
ENST00000483771.5:n.168A=
NM_001012720.1:c.216A=	NP_001012738.1:p.Ala72=
NM_001012722.1:c.216A=	NP_001012740.1:p.Ala72=
NM_002921.3:c.216A=	NP_002912.2:p.Ala72=
XM_011540028.1:c.243A=	XP_011538330.1:p.Ala81=
XM_024448118.1:c.216A=	XP_024303886.1:p.Ala72=
XR_002957005.1:n.1566A=
NM_001012720.2:c.216A= MANE Select	NP_001012738.1:p.Ala72=
NM_001012722.2:c.216A=	NP_001012740.1:p.Ala72=
NM_002921.4:c.216A=	NP_002912.2:p.Ala72=