Canonical Allele Identifier: CA5581580

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84258513C>A , CM000672.2:g.84258513C>A	GRCh38
NC_000010.10:g.86018269C>A , CM000672.1:g.86018269C>A	GRCh37
NC_000010.9:g.86008249C>A	NCBI36
NG_009106.1:g.18461C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.750C>A MANE Select	NP_001012738.1:p.Pro250=
ENST00000652092.2:c.750C>A MANE Select	ENSP00000498299.1:p.Pro250=
NM_001012720.1:c.750C>A	NP_001012738.1:p.Pro250=
NM_001012722.1:c.636C>A	NP_001012740.1:p.Pro212=
NM_001012722.2:c.636C>A	NP_001012740.1:p.Pro212=
NM_002921.3:c.762C>A	NP_002912.2:p.Pro254=
NM_002921.4:c.762C>A	NP_002912.2:p.Pro254=
ENST00000358110.6:c.636C>A	ENSP00000350823.5:p.Pro212=
ENST00000358110.7:c.636C>A	ENSP00000350823.5:p.Pro212=
ENST00000359452.8:c.762C>A	ENSP00000352427.4:p.Pro254=
ENST00000359452.9:c.762C>A	ENSP00000352427.4:p.Pro254=
ENST00000478727.5:n.674C>A
ENST00000478727.6:c.*707C>A	ENSP00000498966.1:n.*707C>A
ENST00000479725.1:n.345C>A
ENST00000483660.5:n.621C>A
ENST00000483771.5:n.1876C>A
ENST00000650682.1:c.99C>A	ENSP00000498223.1:p.Pro33=
ENST00000650774.1:c.*274C>A	ENSP00000498908.1:n.*274C>A
ENST00000651155.1:c.*360C>A	ENSP00000499193.1:n.*360C>A
ENST00000651237.1:c.213C>A	ENSP00000498404.1:p.Pro71=
ENST00000652073.1:c.213C>A	ENSP00000498800.1:p.Pro71=
ENST00000652122.1:c.807C>A	ENSP00000498917.1:p.Pro269=
ENST00000652310.1:c.*936C>A	ENSP00000498927.1:n.*936C>A
XM_011540028.1:c.663C>A	XP_011538330.1:p.Pro221=
XR_002957005.1:n.2358C>A