Canonical Allele Identifier: CA228904

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84257984C>T , CM000672.2:g.84257984C>T	GRCh38
NC_000010.10:g.86017740C>T , CM000672.1:g.86017740C>T	GRCh37
NC_000010.9:g.86007720C>T	NCBI36
NG_009106.1:g.17932C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.722C>T MANE Select	NP_001012738.1:p.Ser241Phe
ENST00000652092.2:c.722C>T MANE Select	ENSP00000498299.1:p.Ser241Phe
NM_001012720.1:c.722C>T	NP_001012738.1:p.Ser241Phe
NM_001012722.1:c.631-524C>T	NP_001012740.1:n.631-524C>T
NM_001012722.2:c.631-524C>T	NP_001012740.1:n.631-524C>T
NM_002921.3:c.734C>T	NP_002912.2:p.Ser245Phe
NM_002921.4:c.734C>T	NP_002912.2:p.Ser245Phe
ENST00000358110.6:c.631-524C>T	ENSP00000350823.5:n.631-524C>T
ENST00000358110.7:c.631-524C>T	ENSP00000350823.5:n.631-524C>T
ENST00000359452.8:c.734C>T	ENSP00000352427.4:p.Ser245Phe
ENST00000359452.9:c.734C>T	ENSP00000352427.4:p.Ser245Phe
ENST00000478727.5:n.669-524C>T
ENST00000478727.6:c.*702-524C>T	ENSP00000498966.1:n.*702-524C>T
ENST00000479725.1:n.317C>T
ENST00000483660.5:n.593C>T
ENST00000483771.5:n.1848C>T
ENST00000650682.1:c.94-524C>T	ENSP00000498223.1:n.94-524C>T
ENST00000650774.1:c.*269-524C>T	ENSP00000498908.1:n.*269-524C>T
ENST00000651155.1:c.*332C>T	ENSP00000499193.1:n.*332C>T
ENST00000651237.1:c.185C>T	ENSP00000498404.1:p.Ser62Phe
ENST00000652073.1:c.185C>T	ENSP00000498800.1:p.Ser62Phe
ENST00000652122.1:c.779C>T	ENSP00000498917.1:p.Ser260Phe
ENST00000652310.1:c.*908C>T	ENSP00000498927.1:n.*908C>T
XM_011540028.1:c.658-524C>T	XP_011538330.1:n.658-524C>T
XR_002957005.1:n.2330C>T