Canonical Allele Identifier: CA377390638

Gene: RGR

Linked Data

• MyVariant Identifiers: chr10:g.86007380T>A (hg19) ; chr10:g.84247624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247624T>A , CM000672.2:g.84247624T>A	GRCh38
NC_000010.10:g.86007380T>A , CM000672.1:g.86007380T>A	GRCh37
NC_000010.9:g.85997360T>A	NCBI36
NG_009106.1:g.7572T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358110.7:c.113T>A	ENSP00000350823.5:p.Ile38Asn
ENST00000359452.9:c.113T>A	ENSP00000352427.4:p.Ile38Asn
ENST00000478727.6:c.*184T>A	ENSP00000498966.1:n.*184T>A
ENST00000483744.6:c.113T>A	ENSP00000498992.1:p.Ile38Asn
ENST00000650682.1:c.-425T>A	ENSP00000498223.1:n.-425T>A
ENST00000650774.1:c.80-17T>A	ENSP00000498908.1:n.80-17T>A
ENST00000651155.1:c.113T>A	ENSP00000499193.1:p.Ile38Asn
ENST00000651237.1:c.-425T>A	ENSP00000498404.1:n.-425T>A
ENST00000652073.1:c.-425T>A	ENSP00000498800.1:n.-425T>A
ENST00000652092.2:c.113T>A MANE Select	ENSP00000498299.1:p.Ile38Asn
ENST00000652122.1:c.113T>A	ENSP00000498917.1:p.Ile38Asn
ENST00000652310.1:c.*58-17T>A	ENSP00000498927.1:n.*58-17T>A
ENST00000358110.6:c.113T>A	ENSP00000350823.5:p.Ile38Asn
ENST00000359452.8:c.113T>A	ENSP00000352427.4:p.Ile38Asn
ENST00000372092.3:c.80-17T>A	ENSP00000361164.3:n.80-17T>A
ENST00000469446.5:n.151T>A
ENST00000478727.5:n.151T>A
ENST00000483660.5:n.108-1298T>A
ENST00000483771.5:n.82-17T>A
NM_001012720.1:c.113T>A	NP_001012738.1:p.Ile38Asn
NM_001012722.1:c.113T>A	NP_001012740.1:p.Ile38Asn
NM_002921.3:c.113T>A	NP_002912.2:p.Ile38Asn
XM_011540028.1:c.140T>A	XP_011538330.1:p.Ile47Asn
XM_024448118.1:c.113T>A	XP_024303886.1:p.Ile38Asn
XR_002957005.1:n.1463T>A
NM_001012720.2:c.113T>A MANE Select	NP_001012738.1:p.Ile38Asn
NM_001012722.2:c.113T>A	NP_001012740.1:p.Ile38Asn
NM_002921.4:c.113T>A	NP_002912.2:p.Ile38Asn