Canonical Allele Identifier: CA377390574
Gene: RGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247590G>C , CM000672.2:g.84247590G>C GRCh38
NC_000010.10:g.86007346G>C , CM000672.1:g.86007346G>C GRCh37
NC_000010.9:g.85997326G>C NCBI36
NG_009106.1:g.7538G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.80-1G>C ENSP00000350823.5:n.80-1G>C
ENST00000359452.9:c.80-1G>C ENSP00000352427.4:n.80-1G>C
ENST00000478727.6:c.*150G>C ENSP00000498966.1:n.*150G>C
ENST00000483744.6:c.80-1G>C ENSP00000498992.1:n.80-1G>C
ENST00000650682.1:c.-459G>C ENSP00000498223.1:n.-459G>C
ENST00000650774.1:c.80-51G>C ENSP00000498908.1:n.80-51G>C
ENST00000651155.1:c.80-1G>C ENSP00000499193.1:n.80-1G>C
ENST00000651237.1:c.-459G>C ENSP00000498404.1:n.-459G>C
ENST00000652073.1:c.-458-1G>C ENSP00000498800.1:n.-458-1G>C
ENST00000652092.2:c.80-1G>C MANE Select ENSP00000498299.1:n.80-1G>C
ENST00000652122.1:c.80-1G>C ENSP00000498917.1:n.80-1G>C
ENST00000652310.1:c.*58-51G>C ENSP00000498927.1:n.*58-51G>C
ENST00000358110.6:c.80-1G>C ENSP00000350823.5:n.80-1G>C
ENST00000359452.8:c.80-1G>C ENSP00000352427.4:n.80-1G>C
ENST00000372092.3:c.80-51G>C ENSP00000361164.3:n.80-51G>C
ENST00000469446.5:n.118-1G>C
ENST00000478727.5:n.118-1G>C
ENST00000483660.5:n.108-1332G>C
ENST00000483771.5:n.82-51G>C
NM_001012720.1:c.80-1G>C NP_001012738.1:n.80-1G>C
NM_001012722.1:c.80-1G>C NP_001012740.1:n.80-1G>C
NM_002921.3:c.80-1G>C NP_002912.2:n.80-1G>C
XM_011540028.1:c.107-1G>C XP_011538330.1:n.107-1G>C
XM_024448118.1:c.80-1G>C XP_024303886.1:n.80-1G>C
XR_002957005.1:n.1430-1G>C
NM_001012720.2:c.80-1G>C MANE Select NP_001012738.1:n.80-1G>C
NM_001012722.2:c.80-1G>C NP_001012740.1:n.80-1G>C
NM_002921.4:c.80-1G>C NP_002912.2:n.80-1G>C