Canonical Allele Identifier: CA377390910

Gene: RGR

Linked Data

• dbSNP Id: rs1393647169
• gnomAD v2: 10-86007481-G-C
• MyVariant Identifiers: chr10:g.86007481G>C (hg19) ; chr10:g.84247725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247725G>C , CM000672.2:g.84247725G>C	GRCh38
NC_000010.10:g.86007481G>C , CM000672.1:g.86007481G>C	GRCh37
NC_000010.9:g.85997461G>C	NCBI36
NG_009106.1:g.7673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.214G>C	ENSP00000350823.5:p.Ala72Pro
ENST00000359452.9:c.214G>C	ENSP00000352427.4:p.Ala72Pro
ENST00000478727.6:c.*285G>C	ENSP00000498966.1:n.*285G>C
ENST00000483744.6:c.214G>C	ENSP00000498992.1:p.Ala72Pro
ENST00000650682.1:c.-324G>C	ENSP00000498223.1:n.-324G>C
ENST00000650774.1:c.164G>C	ENSP00000498908.1:p.Cys55Ser
ENST00000651155.1:c.214G>C	ENSP00000499193.1:p.Ala72Pro
ENST00000651237.1:c.-324G>C	ENSP00000498404.1:n.-324G>C
ENST00000652073.1:c.-324G>C	ENSP00000498800.1:n.-324G>C
ENST00000652092.2:c.214G>C MANE Select	ENSP00000498299.1:p.Ala72Pro
ENST00000652122.1:c.214G>C	ENSP00000498917.1:p.Ala72Pro
ENST00000652310.1:c.*142G>C	ENSP00000498927.1:n.*142G>C
ENST00000358110.6:c.214G>C	ENSP00000350823.5:p.Ala72Pro
ENST00000359452.8:c.214G>C	ENSP00000352427.4:p.Ala72Pro
ENST00000372092.3:c.164G>C	ENSP00000361164.3:p.Cys55Ser
ENST00000469446.5:n.252G>C
ENST00000478727.5:n.252G>C
ENST00000483660.5:n.108-1197G>C
ENST00000483744.5:n.21G>C
ENST00000483771.5:n.166G>C
NM_001012720.1:c.214G>C	NP_001012738.1:p.Ala72Pro
NM_001012722.1:c.214G>C	NP_001012740.1:p.Ala72Pro
NM_002921.3:c.214G>C	NP_002912.2:p.Ala72Pro
XM_011540028.1:c.241G>C	XP_011538330.1:p.Ala81Pro
XM_024448118.1:c.214G>C	XP_024303886.1:p.Ala72Pro
XR_002957005.1:n.1564G>C
NM_001012720.2:c.214G>C MANE Select	NP_001012738.1:p.Ala72Pro
NM_001012722.2:c.214G>C	NP_001012740.1:p.Ala72Pro
NM_002921.4:c.214G>C	NP_002912.2:p.Ala72Pro