Canonical Allele Identifier: CA7565861
Community Standard Title: NM_016194.4(GNB5):c.375+26G>A
Gene: GNB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52153914C>T , CM000677.2:g.52153914C>T GRCh38
NC_000015.9:g.52446111C>T , CM000677.1:g.52446111C>T GRCh37
NC_000015.8:g.50233403C>T NCBI36
NG_052868.1:g.42455G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016194.4:c.375+26G>A MANE Select NP_057278.2:n.375+26G>A
ENST00000261837.12:c.375+26G>A MANE Select ENSP00000261837.7:n.375+26G>A
NM_001379343.1:c.93+26G>A NP_001366272.1:n.93+26G>A
NM_006578.3:c.249+26G>A NP_006569.1:n.249+26G>A
NM_006578.4:c.249+26G>A NP_006569.1:n.249+26G>A
NM_016194.3:c.375+26G>A NP_057278.2:n.375+26G>A
ENST00000261837.11:c.375+26G>A ENSP00000261837.7:n.375+26G>A
ENST00000358784.11:c.249+26G>A ENSP00000351635.7:n.249+26G>A
ENST00000396335.8:c.249+26G>A ENSP00000379626.4:n.249+26G>A
ENST00000560075.1:n.406+26G>A
ENST00000560116.1:c.249+26G>A ENSP00000453176.1:n.249+26G>A
ENST00000561313.5:c.249+26G>A ENSP00000454185.1:n.249+26G>A
XM_011521162.1:c.249+26G>A XP_011519464.1:n.249+26G>A
XM_011521162.3:c.249+26G>A XP_011519464.1:n.249+26G>A
XM_011521163.1:c.93+26G>A XP_011519465.1:n.93+26G>A
XM_011521163.3:c.93+26G>A XP_011519465.1:n.93+26G>A
XR_001751060.2:n.327+26G>A