Canonical Allele Identifier: CA392482859
Gene: GNB5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52153977C>A , CM000677.2:g.52153977C>A GRCh38
NC_000015.9:g.52446174C>A , CM000677.1:g.52446174C>A GRCh37
NC_000015.8:g.50233466C>A NCBI36
NG_052868.1:g.42392G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261837.12:c.338G>T MANE Select ENSP00000261837.7:p.Trp113Leu
ENST00000261837.11:c.338G>T ENSP00000261837.7:p.Trp113Leu
ENST00000358784.11:c.212G>T ENSP00000351635.7:p.Trp71Leu
ENST00000396335.8:c.212G>T ENSP00000379626.4:p.Trp71Leu
ENST00000560075.1:n.369G>T
ENST00000560116.1:c.212G>T ENSP00000453176.1:p.Trp71Leu
ENST00000561313.5:c.212G>T ENSP00000454185.1:p.Trp71Leu
NM_006578.3:c.212G>T NP_006569.1:p.Trp71Leu
NM_016194.3:c.338G>T NP_057278.2:p.Trp113Leu
XM_011521162.1:c.212G>T XP_011519464.1:p.Trp71Leu
XM_011521163.1:c.56G>T XP_011519465.1:p.Trp19Leu
XM_011521162.3:c.212G>T XP_011519464.1:p.Trp71Leu
XM_011521163.3:c.56G>T XP_011519465.1:p.Trp19Leu
XR_001751060.2:n.290G>T
NM_006578.4:c.212G>T NP_006569.1:p.Trp71Leu
NM_016194.4:c.338G>T MANE Select NP_057278.2:p.Trp113Leu
NM_001379343.1:c.56G>T NP_001366272.1:p.Trp19Leu