Canonical Allele Identifier: CA594886997

Gene: RGR

Linked Data

• dbSNP Id: rs1487616149
• gnomAD v2: 10-86007268-T-C
• gnomAD v3: 10-84247512-T-C
• gnomAD v4: 10-84247512-T-C
• MyVariant Identifiers: chr10:g.86007268T>C (hg19) ; chr10:g.84247512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247512T>C , CM000672.2:g.84247512T>C	GRCh38
NC_000010.10:g.86007268T>C , CM000672.1:g.86007268T>C	GRCh37
NC_000010.9:g.85997248T>C	NCBI36
NG_009106.1:g.7460T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.80-79T>C	ENSP00000350823.5:n.80-79T>C
ENST00000359452.9:c.80-79T>C	ENSP00000352427.4:n.80-79T>C
ENST00000478727.6:c.*72T>C	ENSP00000498966.1:n.*72T>C
ENST00000483744.6:c.80-79T>C	ENSP00000498992.1:n.80-79T>C
ENST00000650682.1:c.-537T>C	ENSP00000498223.1:n.-537T>C
ENST00000650774.1:c.80-129T>C	ENSP00000498908.1:n.80-129T>C
ENST00000651155.1:c.80-79T>C	ENSP00000499193.1:n.80-79T>C
ENST00000651237.1:c.-537T>C	ENSP00000498404.1:n.-537T>C
ENST00000652073.1:c.-458-79T>C	ENSP00000498800.1:n.-458-79T>C
ENST00000652092.2:c.80-79T>C MANE Select	ENSP00000498299.1:n.80-79T>C
ENST00000652122.1:c.80-79T>C	ENSP00000498917.1:n.80-79T>C
ENST00000652310.1:c.*58-129T>C	ENSP00000498927.1:n.*58-129T>C
ENST00000358110.6:c.80-79T>C	ENSP00000350823.5:n.80-79T>C
ENST00000359452.8:c.80-79T>C	ENSP00000352427.4:n.80-79T>C
ENST00000372092.3:c.80-129T>C	ENSP00000361164.3:n.80-129T>C
ENST00000469446.5:n.118-79T>C
ENST00000478727.5:n.118-79T>C
ENST00000483660.5:n.108-1410T>C
ENST00000483771.5:n.82-129T>C
NM_001012720.1:c.80-79T>C	NP_001012738.1:n.80-79T>C
NM_001012722.1:c.80-79T>C	NP_001012740.1:n.80-79T>C
NM_002921.3:c.80-79T>C	NP_002912.2:n.80-79T>C
XM_011540028.1:c.107-79T>C	XP_011538330.1:n.107-79T>C
XM_024448118.1:c.80-79T>C	XP_024303886.1:n.80-79T>C
XR_002957005.1:n.1430-79T>C
NM_001012720.2:c.80-79T>C MANE Select	NP_001012738.1:n.80-79T>C
NM_001012722.2:c.80-79T>C	NP_001012740.1:n.80-79T>C
NM_002921.4:c.80-79T>C	NP_002912.2:n.80-79T>C