Canonical Allele Identifier: CA7565878

Gene: GNB5

Linked Data

• ClinVar Variation Id: 1800782
• ClinVar RCV Id: RCV002462379
• dbSNP Id: rs527321236
• ExAC: 15:52446175 A / G
• gnomAD v2: 15-52446175-A-G
• gnomAD v3: 15-52153978-A-G
• gnomAD v4: 15-52153978-A-G
• MyVariant Identifiers: chr15:g.52446175A>G (hg19) ; chr15:g.52153978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52153978A>G , CM000677.2:g.52153978A>G	GRCh38
NC_000015.9:g.52446175A>G , CM000677.1:g.52446175A>G	GRCh37
NC_000015.8:g.50233467A>G	NCBI36
NG_052868.1:g.42391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261837.12:c.337T>C MANE Select	ENSP00000261837.7:p.Trp113Arg
ENST00000261837.11:c.337T>C	ENSP00000261837.7:p.Trp113Arg
ENST00000358784.11:c.211T>C	ENSP00000351635.7:p.Trp71Arg
ENST00000396335.8:c.211T>C	ENSP00000379626.4:p.Trp71Arg
ENST00000560075.1:n.368T>C
ENST00000560116.1:c.211T>C	ENSP00000453176.1:p.Trp71Arg
ENST00000561313.5:c.211T>C	ENSP00000454185.1:p.Trp71Arg
NM_006578.3:c.211T>C	NP_006569.1:p.Trp71Arg
NM_016194.3:c.337T>C	NP_057278.2:p.Trp113Arg
XM_011521162.1:c.211T>C	XP_011519464.1:p.Trp71Arg
XM_011521163.1:c.55T>C	XP_011519465.1:p.Trp19Arg
XM_011521162.3:c.211T>C	XP_011519464.1:p.Trp71Arg
XM_011521163.3:c.55T>C	XP_011519465.1:p.Trp19Arg
XR_001751060.2:n.289T>C
NM_006578.4:c.211T>C	NP_006569.1:p.Trp71Arg
NM_016194.4:c.337T>C MANE Select	NP_057278.2:p.Trp113Arg
NM_001379343.1:c.55T>C	NP_001366272.1:p.Trp19Arg