Canonical Allele Identifier: CA377390592
Gene: RGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247600G>A , CM000672.2:g.84247600G>A GRCh38
NC_000010.10:g.86007356G>A , CM000672.1:g.86007356G>A GRCh37
NC_000010.9:g.85997336G>A NCBI36
NG_009106.1:g.7548G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.89G>A ENSP00000350823.5:p.Gly30Asp
ENST00000359452.9:c.89G>A ENSP00000352427.4:p.Gly30Asp
ENST00000478727.6:c.*160G>A ENSP00000498966.1:n.*160G>A
ENST00000483744.6:c.89G>A ENSP00000498992.1:p.Gly30Asp
ENST00000650682.1:c.-449G>A ENSP00000498223.1:n.-449G>A
ENST00000650774.1:c.80-41G>A ENSP00000498908.1:n.80-41G>A
ENST00000651155.1:c.89G>A ENSP00000499193.1:p.Gly30Asp
ENST00000651237.1:c.-449G>A ENSP00000498404.1:n.-449G>A
ENST00000652073.1:c.-449G>A ENSP00000498800.1:n.-449G>A
ENST00000652092.2:c.89G>A MANE Select ENSP00000498299.1:p.Gly30Asp
ENST00000652122.1:c.89G>A ENSP00000498917.1:p.Gly30Asp
ENST00000652310.1:c.*58-41G>A ENSP00000498927.1:n.*58-41G>A
ENST00000358110.6:c.89G>A ENSP00000350823.5:p.Gly30Asp
ENST00000359452.8:c.89G>A ENSP00000352427.4:p.Gly30Asp
ENST00000372092.3:c.80-41G>A ENSP00000361164.3:n.80-41G>A
ENST00000469446.5:n.127G>A
ENST00000478727.5:n.127G>A
ENST00000483660.5:n.108-1322G>A
ENST00000483771.5:n.82-41G>A
NM_001012720.1:c.89G>A NP_001012738.1:p.Gly30Asp
NM_001012722.1:c.89G>A NP_001012740.1:p.Gly30Asp
NM_002921.3:c.89G>A NP_002912.2:p.Gly30Asp
XM_011540028.1:c.116G>A XP_011538330.1:p.Gly39Asp
XM_024448118.1:c.89G>A XP_024303886.1:p.Gly30Asp
XR_002957005.1:n.1439G>A
NM_001012720.2:c.89G>A MANE Select NP_001012738.1:p.Gly30Asp
NM_001012722.2:c.89G>A NP_001012740.1:p.Gly30Asp
NM_002921.4:c.89G>A NP_002912.2:p.Gly30Asp