Canonical Allele Identifier: CA377390862

Gene: RGR

Linked Data

• MyVariant Identifiers: chr10:g.86007464G>C (hg19) ; chr10:g.84247708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247708G>C , CM000672.2:g.84247708G>C	GRCh38
NC_000010.10:g.86007464G>C , CM000672.1:g.86007464G>C	GRCh37
NC_000010.9:g.85997444G>C	NCBI36
NG_009106.1:g.7656G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.197G>C	ENSP00000350823.5:p.Ser66Thr
ENST00000359452.9:c.197G>C	ENSP00000352427.4:p.Ser66Thr
ENST00000478727.6:c.*268G>C	ENSP00000498966.1:n.*268G>C
ENST00000483744.6:c.197G>C	ENSP00000498992.1:p.Ser66Thr
ENST00000650682.1:c.-341G>C	ENSP00000498223.1:n.-341G>C
ENST00000650774.1:c.147G>C	ENSP00000498908.1:p.Gln49His
ENST00000651155.1:c.197G>C	ENSP00000499193.1:p.Ser66Thr
ENST00000651237.1:c.-341G>C	ENSP00000498404.1:n.-341G>C
ENST00000652073.1:c.-341G>C	ENSP00000498800.1:n.-341G>C
ENST00000652092.2:c.197G>C MANE Select	ENSP00000498299.1:p.Ser66Thr
ENST00000652122.1:c.197G>C	ENSP00000498917.1:p.Ser66Thr
ENST00000652310.1:c.*125G>C	ENSP00000498927.1:n.*125G>C
ENST00000358110.6:c.197G>C	ENSP00000350823.5:p.Ser66Thr
ENST00000359452.8:c.197G>C	ENSP00000352427.4:p.Ser66Thr
ENST00000372092.3:c.147G>C	ENSP00000361164.3:p.Gln49His
ENST00000469446.5:n.235G>C
ENST00000478727.5:n.235G>C
ENST00000483660.5:n.108-1214G>C
ENST00000483744.5:n.4G>C
ENST00000483771.5:n.149G>C
NM_001012720.1:c.197G>C	NP_001012738.1:p.Ser66Thr
NM_001012722.1:c.197G>C	NP_001012740.1:p.Ser66Thr
NM_002921.3:c.197G>C	NP_002912.2:p.Ser66Thr
XM_011540028.1:c.224G>C	XP_011538330.1:p.Ser75Thr
XM_024448118.1:c.197G>C	XP_024303886.1:p.Ser66Thr
XR_002957005.1:n.1547G>C
NM_001012720.2:c.197G>C MANE Select	NP_001012738.1:p.Ser66Thr
NM_001012722.2:c.197G>C	NP_001012740.1:p.Ser66Thr
NM_002921.4:c.197G>C	NP_002912.2:p.Ser66Thr