Canonical Allele Identifier: CA392483379
Gene: GNB5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52154020T>A , CM000677.2:g.52154020T>A GRCh38
NC_000015.9:g.52446217T>A , CM000677.1:g.52446217T>A GRCh37
NC_000015.8:g.50233509T>A NCBI36
NG_052868.1:g.42349A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261837.12:c.295A>T MANE Select ENSP00000261837.7:p.Arg99Trp
ENST00000261837.11:c.295A>T ENSP00000261837.7:p.Arg99Trp
ENST00000358784.11:c.169A>T ENSP00000351635.7:p.Arg57Trp
ENST00000396335.8:c.169A>T ENSP00000379626.4:p.Arg57Trp
ENST00000560075.1:n.326A>T
ENST00000560116.1:c.169A>T ENSP00000453176.1:p.Arg57Trp
ENST00000561313.5:c.169A>T ENSP00000454185.1:p.Arg57Trp
NM_006578.3:c.169A>T NP_006569.1:p.Arg57Trp
NM_016194.3:c.295A>T NP_057278.2:p.Arg99Trp
XM_011521162.1:c.169A>T XP_011519464.1:p.Arg57Trp
XM_011521163.1:c.13A>T XP_011519465.1:p.Arg5Trp
XM_011521162.3:c.169A>T XP_011519464.1:p.Arg57Trp
XM_011521163.3:c.13A>T XP_011519465.1:p.Arg5Trp
XR_001751060.2:n.247A>T
NM_006578.4:c.169A>T NP_006569.1:p.Arg57Trp
NM_016194.4:c.295A>T MANE Select NP_057278.2:p.Arg99Trp
NM_001379343.1:c.13A>T NP_001366272.1:p.Arg5Trp