Canonical Allele Identifier: CA7565665
Community Standard Title: NM_016194.4(GNB5):c.762C>T (p.Phe254=)
Gene: GNB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52135622G>A , CM000677.2:g.52135622G>A GRCh38
NC_000015.9:g.52427819G>A , CM000677.1:g.52427819G>A GRCh37
NC_000015.8:g.50215111G>A NCBI36
NG_052868.1:g.60747C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016194.4:c.762C>T MANE Select NP_057278.2:p.Phe254=
ENST00000261837.12:c.762C>T MANE Select ENSP00000261837.7:p.Phe254=
NM_001379343.1:c.480C>T NP_001366272.1:p.Phe160=
NM_006578.3:c.636C>T NP_006569.1:p.Phe212=
NM_006578.4:c.636C>T NP_006569.1:p.Phe212=
NM_016194.3:c.762C>T NP_057278.2:p.Phe254=
ENST00000261837.11:c.762C>T ENSP00000261837.7:p.Phe254=
ENST00000358784.11:c.636C>T ENSP00000351635.7:p.Phe212=
ENST00000396335.8:c.426C>T ENSP00000379626.4:p.Phe142=
ENST00000558519.5:c.207C>T ENSP00000453339.1:p.Phe69=
ENST00000559348.5:n.1243C>T
ENST00000559541.1:n.226C>T
XM_011521162.1:c.636C>T XP_011519464.1:p.Phe212=
XM_011521162.3:c.636C>T XP_011519464.1:p.Phe212=
XM_011521163.1:c.480C>T XP_011519465.1:p.Phe160=
XM_011521163.3:c.480C>T XP_011519465.1:p.Phe160=
XM_017021867.2:c.213C>T XP_016877356.1:p.Phe71=
XR_001751060.2:n.714C>T