Canonical Allele Identifier: CA7565794

Gene: GNB5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52147552A>G , CM000677.2:g.52147552A>G	GRCh38
NC_000015.9:g.52439749A>G , CM000677.1:g.52439749A>G	GRCh37
NC_000015.8:g.50227041A>G	NCBI36
NG_052868.1:g.48817T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016194.4:c.418-17T>C MANE Select	NP_057278.2:n.418-17T>C
ENST00000261837.12:c.418-17T>C MANE Select	ENSP00000261837.7:n.418-17T>C
NM_001379343.1:c.136-17T>C	NP_001366272.1:n.136-17T>C
NM_006578.3:c.292-17T>C	NP_006569.1:n.292-17T>C
NM_006578.4:c.292-17T>C	NP_006569.1:n.292-17T>C
NM_016194.3:c.418-17T>C	NP_057278.2:n.418-17T>C
ENST00000261837.11:c.418-17T>C	ENSP00000261837.7:n.418-17T>C
ENST00000358784.11:c.292-17T>C	ENSP00000351635.7:n.292-17T>C
ENST00000396335.8:c.291+2332T>C	ENSP00000379626.4:n.291+2332T>C
ENST00000560075.1:n.449-17T>C
ENST00000561313.5:c.291+2332T>C	ENSP00000454185.1:n.291+2332T>C
XM_011521162.1:c.292-17T>C	XP_011519464.1:n.292-17T>C
XM_011521162.3:c.292-17T>C	XP_011519464.1:n.292-17T>C
XM_011521163.1:c.136-17T>C	XP_011519465.1:n.136-17T>C
XM_011521163.3:c.136-17T>C	XP_011519465.1:n.136-17T>C
XR_001751060.2:n.370-17T>C