Canonical Allele Identifier: CA2741428937
Gene: GNB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52153900C>A , CM000677.2:g.52153900C>A GRCh38
NC_000015.9:g.52446097C>A , CM000677.1:g.52446097C>A GRCh37
NC_000015.8:g.50233389C>A NCBI36
NG_052868.1:g.42469G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261837.12:c.375+40G>T MANE Select ENSP00000261837.7:n.375+40G>T
ENST00000261837.11:c.375+40G>T ENSP00000261837.7:n.375+40G>T
ENST00000358784.11:c.249+40G>T ENSP00000351635.7:n.249+40G>T
ENST00000396335.8:c.249+40G>T ENSP00000379626.4:n.249+40G>T
ENST00000560075.1:n.406+40G>T
ENST00000560116.1:c.249+40G>T ENSP00000453176.1:n.249+40G>T
ENST00000561313.5:c.249+40G>T ENSP00000454185.1:n.249+40G>T
NM_006578.3:c.249+40G>T NP_006569.1:n.249+40G>T
NM_016194.3:c.375+40G>T NP_057278.2:n.375+40G>T
XM_011521162.1:c.249+40G>T XP_011519464.1:n.249+40G>T
XM_011521163.1:c.93+40G>T XP_011519465.1:n.93+40G>T
XM_011521162.3:c.249+40G>T XP_011519464.1:n.249+40G>T
XM_011521163.3:c.93+40G>T XP_011519465.1:n.93+40G>T
XR_001751060.2:n.327+40G>T
NM_006578.4:c.249+40G>T NP_006569.1:n.249+40G>T
NM_016194.4:c.375+40G>T MANE Select NP_057278.2:n.375+40G>T
NM_001379343.1:c.93+40G>T NP_001366272.1:n.93+40G>T