Canonical Allele Identifier: CA392487817

Gene: GNB5

Linked Data

• ClinVar Variation Id: 450608
• ClinVar RCV Id: RCV000519052 ; RCV001250226
• dbSNP Id: rs749597091
• gnomAD v2: 15-52416814-G-T
• gnomAD v4: 15-52124617-G-T
• MyVariant Identifiers: chr15:g.52416814G>T (hg19) ; chr15:g.52124617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52124617G>T , CM000677.2:g.52124617G>T	GRCh38
NC_000015.9:g.52416814G>T , CM000677.1:g.52416814G>T	GRCh37
NC_000015.8:g.50204106G>T	NCBI36
NG_052868.1:g.71752C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261837.12:c.1032C>A MANE Select	ENSP00000261837.7:p.Tyr344Ter
ENST00000261837.11:c.1032C>A	ENSP00000261837.7:p.Tyr344Ter
ENST00000358784.11:c.906C>A	ENSP00000351635.7:p.Tyr302Ter
ENST00000396335.8:c.696C>A	ENSP00000379626.4:p.Tyr232Ter
ENST00000557936.5:n.720C>A
ENST00000558519.5:c.529C>A	ENSP00000453339.1:n.529C>A
ENST00000559348.5:n.1513C>A
ENST00000559541.1:n.680C>A
ENST00000560085.1:n.959+547C>A
NM_006578.3:c.906C>A	NP_006569.1:p.Tyr302Ter
NM_016194.3:c.1032C>A	NP_057278.2:p.Tyr344Ter
XM_011521162.1:c.906C>A	XP_011519464.1:p.Tyr302Ter
XM_011521163.1:c.750C>A	XP_011519465.1:p.Tyr250Ter
XM_011521162.3:c.906C>A	XP_011519464.1:p.Tyr302Ter
XM_011521163.3:c.750C>A	XP_011519465.1:p.Tyr250Ter
XM_017021867.2:c.483C>A	XP_016877356.1:p.Tyr161Ter
XR_001751060.2:n.984C>A
NM_006578.4:c.906C>A	NP_006569.1:p.Tyr302Ter
NM_016194.4:c.1032C>A MANE Select	NP_057278.2:p.Tyr344Ter
NM_001379343.1:c.750C>A	NP_001366272.1:p.Tyr250Ter