Canonical Allele Identifier: CA2574598348

Gene: RGR

Linked Data

• gnomAD v4: 10-84247829-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247829G>A , CM000672.2:g.84247829G>A	GRCh38
NC_000010.10:g.86007585G>A , CM000672.1:g.86007585G>A	GRCh37
NC_000010.9:g.85997565G>A	NCBI36
NG_009106.1:g.7777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.236+82G>A	ENSP00000350823.5:n.236+82G>A
ENST00000359452.9:c.236+82G>A	ENSP00000352427.4:n.236+82G>A
ENST00000478727.6:c.*307+82G>A	ENSP00000498966.1:n.*307+82G>A
ENST00000483744.6:c.236+82G>A	ENSP00000498992.1:n.236+82G>A
ENST00000650682.1:c.-302+82G>A	ENSP00000498223.1:n.-302+82G>A
ENST00000650774.1:c.186+82G>A	ENSP00000498908.1:n.186+82G>A
ENST00000651155.1:c.236+82G>A	ENSP00000499193.1:n.236+82G>A
ENST00000651237.1:c.-302+82G>A	ENSP00000498404.1:n.-302+82G>A
ENST00000652073.1:c.-302+82G>A	ENSP00000498800.1:n.-302+82G>A
ENST00000652092.2:c.236+82G>A MANE Select	ENSP00000498299.1:n.236+82G>A
ENST00000652122.1:c.236+82G>A	ENSP00000498917.1:n.236+82G>A
ENST00000652310.1:c.*164+82G>A	ENSP00000498927.1:n.*164+82G>A
ENST00000358110.6:c.236+82G>A	ENSP00000350823.5:n.236+82G>A
ENST00000359452.8:c.236+82G>A	ENSP00000352427.4:n.236+82G>A
ENST00000372092.3:c.186+82G>A	ENSP00000361164.3:n.186+82G>A
ENST00000469446.5:n.356G>A
ENST00000478727.5:n.274+82G>A
ENST00000483660.5:n.108-1093G>A
ENST00000483744.5:n.43+82G>A
ENST00000483771.5:n.270G>A
NM_001012720.1:c.236+82G>A	NP_001012738.1:n.236+82G>A
NM_001012722.1:c.236+82G>A	NP_001012740.1:n.236+82G>A
NM_002921.3:c.236+82G>A	NP_002912.2:n.236+82G>A
XM_011540028.1:c.263+82G>A	XP_011538330.1:n.263+82G>A
XM_024448118.1:c.236+82G>A	XP_024303886.1:n.236+82G>A
XR_002957005.1:n.1586+82G>A
NM_001012720.2:c.236+82G>A MANE Select	NP_001012738.1:n.236+82G>A
NM_001012722.2:c.236+82G>A	NP_001012740.1:n.236+82G>A
NM_002921.4:c.236+82G>A	NP_002912.2:n.236+82G>A