Canonical Allele Identifier: CA5581572

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84258495T>C , CM000672.2:g.84258495T>C	GRCh38
NC_000010.10:g.86018251T>C , CM000672.1:g.86018251T>C	GRCh37
NC_000010.9:g.86008231T>C	NCBI36
NG_009106.1:g.18443T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001012720.2:c.745-13T>C MANE Select	NP_001012738.1:n.745-13T>C
ENST00000652092.2:c.745-13T>C MANE Select	ENSP00000498299.1:n.745-13T>C
NM_001012720.1:c.745-13T>C	NP_001012738.1:n.745-13T>C
NM_001012722.1:c.631-13T>C	NP_001012740.1:n.631-13T>C
NM_001012722.2:c.631-13T>C	NP_001012740.1:n.631-13T>C
NM_002921.3:c.757-13T>C	NP_002912.2:n.757-13T>C
NM_002921.4:c.757-13T>C	NP_002912.2:n.757-13T>C
ENST00000358110.6:c.631-13T>C	ENSP00000350823.5:n.631-13T>C
ENST00000358110.7:c.631-13T>C	ENSP00000350823.5:n.631-13T>C
ENST00000359452.8:c.757-13T>C	ENSP00000352427.4:n.757-13T>C
ENST00000359452.9:c.757-13T>C	ENSP00000352427.4:n.757-13T>C
ENST00000478727.5:n.669-13T>C
ENST00000478727.6:c.*702-13T>C	ENSP00000498966.1:n.*702-13T>C
ENST00000479725.1:n.340-13T>C
ENST00000483660.5:n.616-13T>C
ENST00000483771.5:n.1871-13T>C
ENST00000650682.1:c.94-13T>C	ENSP00000498223.1:n.94-13T>C
ENST00000650774.1:c.*269-13T>C	ENSP00000498908.1:n.*269-13T>C
ENST00000651155.1:c.*355-13T>C	ENSP00000499193.1:n.*355-13T>C
ENST00000651237.1:c.208-13T>C	ENSP00000498404.1:n.208-13T>C
ENST00000652073.1:c.208-13T>C	ENSP00000498800.1:n.208-13T>C
ENST00000652122.1:c.802-13T>C	ENSP00000498917.1:n.802-13T>C
ENST00000652310.1:c.*931-13T>C	ENSP00000498927.1:n.*931-13T>C
XM_011540028.1:c.658-13T>C	XP_011538330.1:n.658-13T>C
XR_002957005.1:n.2353-13T>C