Canonical Allele Identifier: CA490403713

Gene: GNB5

Linked Data

• gnomAD v4: 15-52154027-C-T
• MyVariant Identifiers: chr15:g.52446224C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52154027C>T , CM000677.2:g.52154027C>T	GRCh38
NC_000015.9:g.52446224C>T , CM000677.1:g.52446224C>T	GRCh37
NC_000015.8:g.50233516C>T	NCBI36
NG_052868.1:g.42342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261837.12:c.288G>A MANE Select	ENSP00000261837.7:p.Lys96=
ENST00000261837.11:c.288G>A	ENSP00000261837.7:p.Lys96=
ENST00000358784.11:c.162G>A	ENSP00000351635.7:p.Lys54=
ENST00000396335.8:c.162G>A	ENSP00000379626.4:p.Lys54=
ENST00000560075.1:n.319G>A
ENST00000560116.1:c.162G>A	ENSP00000453176.1:p.Lys54=
ENST00000561313.5:c.162G>A	ENSP00000454185.1:p.Lys54=
NM_006578.3:c.162G>A	NP_006569.1:p.Lys54=
NM_016194.3:c.288G>A	NP_057278.2:p.Lys96=
XM_011521162.1:c.162G>A	XP_011519464.1:p.Lys54=
XM_011521163.1:c.6G>A	XP_011519465.1:p.Lys2=
XM_011521162.3:c.162G>A	XP_011519464.1:p.Lys54=
XM_011521163.3:c.6G>A	XP_011519465.1:p.Lys2=
XR_001751060.2:n.240G>A
NM_006578.4:c.162G>A	NP_006569.1:p.Lys54=
NM_016194.4:c.288G>A MANE Select	NP_057278.2:p.Lys96=
NM_001379343.1:c.6G>A	NP_001366272.1:p.Lys2=