Canonical Allele Identifier: CA377391821

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84254347C>A , CM000672.2:g.84254347C>A	GRCh38
NC_000010.10:g.86014103C>A , CM000672.1:g.86014103C>A	GRCh37
NC_000010.9:g.86004083C>A	NCBI36
NG_009106.1:g.14295C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.534C>A MANE Select	NP_001012738.1:p.Phe178Leu
ENST00000652092.2:c.534C>A MANE Select	ENSP00000498299.1:p.Phe178Leu
NM_001012720.1:c.534C>A	NP_001012738.1:p.Phe178Leu
NM_001012722.1:c.534C>A	NP_001012740.1:p.Phe178Leu
NM_001012722.2:c.534C>A	NP_001012740.1:p.Phe178Leu
NM_002921.3:c.546C>A	NP_002912.2:p.Phe182Leu
NM_002921.4:c.546C>A	NP_002912.2:p.Phe182Leu
ENST00000358110.6:c.534C>A	ENSP00000350823.5:p.Phe178Leu
ENST00000358110.7:c.534C>A	ENSP00000350823.5:p.Phe178Leu
ENST00000359452.8:c.546C>A	ENSP00000352427.4:p.Phe182Leu
ENST00000359452.9:c.546C>A	ENSP00000352427.4:p.Phe182Leu
ENST00000478727.5:n.572C>A
ENST00000478727.6:c.*605C>A	ENSP00000498966.1:n.*605C>A
ENST00000483660.5:n.405C>A
ENST00000483744.5:n.398C>A
ENST00000483744.6:c.534C>A	ENSP00000498992.1:p.Phe178Leu
ENST00000483771.5:n.1660C>A
ENST00000497161.1:n.269C>A
ENST00000650682.1:c.-4C>A	ENSP00000498223.1:n.-4C>A
ENST00000650774.1:c.*172C>A	ENSP00000498908.1:n.*172C>A
ENST00000651155.1:c.534C>A	ENSP00000499193.1:p.Phe178Leu
ENST00000651237.1:c.-4C>A	ENSP00000498404.1:n.-4C>A
ENST00000652073.1:c.-4C>A	ENSP00000498800.1:n.-4C>A
ENST00000652122.1:c.591C>A	ENSP00000498917.1:p.Phe197Leu
ENST00000652310.1:c.*462C>A	ENSP00000498927.1:n.*462C>A
XM_011540028.1:c.561C>A	XP_011538330.1:p.Phe187Leu
XM_024448118.1:c.534C>A	XP_024303886.1:p.Phe178Leu
XR_002957005.1:n.1884C>A