Canonical Allele Identifier: CA5581505

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84254425G>A , CM000672.2:g.84254425G>A	GRCh38
NC_000010.10:g.86014181G>A , CM000672.1:g.86014181G>A	GRCh37
NC_000010.9:g.86004161G>A	NCBI36
NG_009106.1:g.14373G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.612G>A MANE Select	NP_001012738.1:p.Gly204=
ENST00000652092.2:c.612G>A MANE Select	ENSP00000498299.1:p.Gly204=
NM_001012720.1:c.612G>A	NP_001012738.1:p.Gly204=
NM_001012722.1:c.612G>A	NP_001012740.1:p.Gly204=
NM_001012722.2:c.612G>A	NP_001012740.1:p.Gly204=
NM_002921.3:c.624G>A	NP_002912.2:p.Gly208=
NM_002921.4:c.624G>A	NP_002912.2:p.Gly208=
ENST00000358110.6:c.612G>A	ENSP00000350823.5:p.Gly204=
ENST00000358110.7:c.612G>A	ENSP00000350823.5:p.Gly204=
ENST00000359452.8:c.624G>A	ENSP00000352427.4:p.Gly208=
ENST00000359452.9:c.624G>A	ENSP00000352427.4:p.Gly208=
ENST00000478727.5:n.650G>A
ENST00000478727.6:c.*683G>A	ENSP00000498966.1:n.*683G>A
ENST00000483660.5:n.483G>A
ENST00000483744.5:n.476G>A
ENST00000483744.6:c.612G>A	ENSP00000498992.1:p.Gly204=
ENST00000483771.5:n.1738G>A
ENST00000497161.1:n.347G>A
ENST00000650682.1:c.75G>A	ENSP00000498223.1:p.Gly25=
ENST00000650774.1:c.*250G>A	ENSP00000498908.1:n.*250G>A
ENST00000651155.1:c.612G>A	ENSP00000499193.1:p.Gly204=
ENST00000651237.1:c.75G>A	ENSP00000498404.1:p.Gly25=
ENST00000652073.1:c.75G>A	ENSP00000498800.1:p.Gly25=
ENST00000652122.1:c.669G>A	ENSP00000498917.1:p.Gly223=
ENST00000652310.1:c.*540G>A	ENSP00000498927.1:n.*540G>A
XM_011540028.1:c.639G>A	XP_011538330.1:p.Gly213=
XM_024448118.1:c.612G>A	XP_024303886.1:p.Gly204=
XR_002957005.1:n.1962G>A