Canonical Allele Identifier: CA7565688

Gene: GNB5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52135723G>A , CM000677.2:g.52135723G>A	GRCh38
NC_000015.9:g.52427920G>A , CM000677.1:g.52427920G>A	GRCh37
NC_000015.8:g.50215212G>A	NCBI36
NG_052868.1:g.60646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261837.12:c.661C>T MANE Select	ENSP00000261837.7:p.Leu221=
ENST00000261837.11:c.661C>T	ENSP00000261837.7:p.Leu221=
ENST00000358784.11:c.535C>T	ENSP00000351635.7:p.Leu179=
ENST00000396335.8:c.325C>T	ENSP00000379626.4:p.Leu109=
ENST00000558519.5:c.106C>T	ENSP00000453339.1:p.Leu36=
ENST00000559348.5:n.1142C>T
ENST00000559541.1:n.125C>T
ENST00000561313.5:c.*155C>T	ENSP00000454185.1:n.*155C>T
NM_006578.3:c.535C>T	NP_006569.1:p.Leu179=
NM_016194.3:c.661C>T	NP_057278.2:p.Leu221=
XM_011521162.1:c.535C>T	XP_011519464.1:p.Leu179=
XM_011521163.1:c.379C>T	XP_011519465.1:p.Leu127=
XM_011521162.3:c.535C>T	XP_011519464.1:p.Leu179=
XM_011521163.3:c.379C>T	XP_011519465.1:p.Leu127=
XM_017021867.2:c.112C>T	XP_016877356.1:p.Leu38=
XR_001751060.2:n.613C>T
NM_006578.4:c.535C>T	NP_006569.1:p.Leu179=
NM_016194.4:c.661C>T MANE Select	NP_057278.2:p.Leu221=
NM_001379343.1:c.379C>T	NP_001366272.1:p.Leu127=