Canonical Allele Identifier: CA392482743
Gene: GNB5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52153968T>A , CM000677.2:g.52153968T>A GRCh38
NC_000015.9:g.52446165T>A , CM000677.1:g.52446165T>A GRCh37
NC_000015.8:g.50233457T>A NCBI36
NG_052868.1:g.42401A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261837.12:c.347A>T MANE Select ENSP00000261837.7:p.Asp116Val
ENST00000261837.11:c.347A>T ENSP00000261837.7:p.Asp116Val
ENST00000358784.11:c.221A>T ENSP00000351635.7:p.Asp74Val
ENST00000396335.8:c.221A>T ENSP00000379626.4:p.Asp74Val
ENST00000560075.1:n.378A>T
ENST00000560116.1:c.221A>T ENSP00000453176.1:p.Asp74Val
ENST00000561313.5:c.221A>T ENSP00000454185.1:p.Asp74Val
NM_006578.3:c.221A>T NP_006569.1:p.Asp74Val
NM_016194.3:c.347A>T NP_057278.2:p.Asp116Val
XM_011521162.1:c.221A>T XP_011519464.1:p.Asp74Val
XM_011521163.1:c.65A>T XP_011519465.1:p.Asp22Val
XM_011521162.3:c.221A>T XP_011519464.1:p.Asp74Val
XM_011521163.3:c.65A>T XP_011519465.1:p.Asp22Val
XR_001751060.2:n.299A>T
NM_006578.4:c.221A>T NP_006569.1:p.Asp74Val
NM_016194.4:c.347A>T MANE Select NP_057278.2:p.Asp116Val
NM_001379343.1:c.65A>T NP_001366272.1:p.Asp22Val