Canonical Allele Identifier: CA377390906
Gene: RGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247724T>A , CM000672.2:g.84247724T>A GRCh38
NC_000010.10:g.86007480T>A , CM000672.1:g.86007480T>A GRCh37
NC_000010.9:g.85997460T>A NCBI36
NG_009106.1:g.7672T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358110.7:c.213T>A ENSP00000350823.5:p.Val71=
ENST00000359452.9:c.213T>A ENSP00000352427.4:p.Val71=
ENST00000478727.6:c.*284T>A ENSP00000498966.1:n.*284T>A
ENST00000483744.6:c.213T>A ENSP00000498992.1:p.Val71=
ENST00000650682.1:c.-325T>A ENSP00000498223.1:n.-325T>A
ENST00000650774.1:c.163T>A ENSP00000498908.1:p.Cys55Ser
ENST00000651155.1:c.213T>A ENSP00000499193.1:p.Val71=
ENST00000651237.1:c.-325T>A ENSP00000498404.1:n.-325T>A
ENST00000652073.1:c.-325T>A ENSP00000498800.1:n.-325T>A
ENST00000652092.2:c.213T>A MANE Select ENSP00000498299.1:p.Val71=
ENST00000652122.1:c.213T>A ENSP00000498917.1:p.Val71=
ENST00000652310.1:c.*141T>A ENSP00000498927.1:n.*141T>A
ENST00000358110.6:c.213T>A ENSP00000350823.5:p.Val71=
ENST00000359452.8:c.213T>A ENSP00000352427.4:p.Val71=
ENST00000372092.3:c.163T>A ENSP00000361164.3:p.Cys55Ser
ENST00000469446.5:n.251T>A
ENST00000478727.5:n.251T>A
ENST00000483660.5:n.108-1198T>A
ENST00000483744.5:n.20T>A
ENST00000483771.5:n.165T>A
NM_001012720.1:c.213T>A NP_001012738.1:p.Val71=
NM_001012722.1:c.213T>A NP_001012740.1:p.Val71=
NM_002921.3:c.213T>A NP_002912.2:p.Val71=
XM_011540028.1:c.240T>A XP_011538330.1:p.Val80=
XM_024448118.1:c.213T>A XP_024303886.1:p.Val71=
XR_002957005.1:n.1563T>A
NM_001012720.2:c.213T>A MANE Select NP_001012738.1:p.Val71=
NM_001012722.2:c.213T>A NP_001012740.1:p.Val71=
NM_002921.4:c.213T>A NP_002912.2:p.Val71=