Canonical Allele Identifier: CA180388

Gene: RGR

Linked Data

• ClinVar Variation Id: 167591
• ClinVar RCV Id: RCV000153836 ; RCV000362368 ; RCV000954958
• dbSNP Id: rs143761967
• ExAC: 10:86008759 T / C
• gnomAD v2: 10-86008759-T-C
• gnomAD v3: 10-84249003-T-C
• gnomAD v4: 10-84249003-T-C
• MyVariant Identifiers: chr10:g.86008759T>C (hg19) ; chr10:g.84249003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84249003T>C , CM000672.2:g.84249003T>C	GRCh38
NC_000010.10:g.86008759T>C , CM000672.1:g.86008759T>C	GRCh37
NC_000010.9:g.85998739T>C	NCBI36
NG_009106.1:g.8951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.318T>C	ENSP00000350823.5:p.Ser106=
ENST00000359452.9:c.330T>C	ENSP00000352427.4:p.Ser110=
ENST00000478727.6:c.*389T>C	ENSP00000498966.1:n.*389T>C
ENST00000483744.6:c.318T>C	ENSP00000498992.1:p.Ser106=
ENST00000650682.1:c.-220T>C	ENSP00000498223.1:n.-220T>C
ENST00000650774.1:c.268T>C	ENSP00000498908.1:p.Cys90Arg
ENST00000651155.1:c.318T>C	ENSP00000499193.1:p.Ser106=
ENST00000651237.1:c.-220T>C	ENSP00000498404.1:n.-220T>C
ENST00000652073.1:c.-220T>C	ENSP00000498800.1:n.-220T>C
ENST00000652092.2:c.318T>C MANE Select	ENSP00000498299.1:p.Ser106=
ENST00000652122.1:c.375T>C	ENSP00000498917.1:p.Ser125=
ENST00000652310.1:c.*246T>C	ENSP00000498927.1:n.*246T>C
ENST00000358110.6:c.318T>C	ENSP00000350823.5:p.Ser106=
ENST00000359452.8:c.330T>C	ENSP00000352427.4:p.Ser110=
ENST00000372092.3:c.280T>C	ENSP00000361164.3:p.Cys94Arg
ENST00000478727.5:n.356T>C
ENST00000483660.5:n.189T>C
ENST00000483744.5:n.182T>C
ENST00000483771.5:n.1444T>C
ENST00000497161.1:n.53T>C
NM_001012720.1:c.318T>C	NP_001012738.1:p.Ser106=
NM_001012722.1:c.318T>C	NP_001012740.1:p.Ser106=
NM_002921.3:c.330T>C	NP_002912.2:p.Ser110=
XM_011540028.1:c.345T>C	XP_011538330.1:p.Ser115=
XM_024448118.1:c.318T>C	XP_024303886.1:p.Ser106=
XR_002957005.1:n.1668T>C
NM_001012720.2:c.318T>C MANE Select	NP_001012738.1:p.Ser106=
NM_001012722.2:c.318T>C	NP_001012740.1:p.Ser106=
NM_002921.4:c.330T>C	NP_002912.2:p.Ser110=