Canonical Allele Identifier: CA392482287

Gene: GNB5

Linked Data

• dbSNP Id: rs1328562471
• gnomAD v2: 15-52446135-A-T
• gnomAD v3: 15-52153938-A-T
• gnomAD v4: 15-52153938-A-T
• MyVariant Identifiers: chr15:g.52446135A>T (hg19) ; chr15:g.52153938A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52153938A>T , CM000677.2:g.52153938A>T	GRCh38
NC_000015.9:g.52446135A>T , CM000677.1:g.52446135A>T	GRCh37
NC_000015.8:g.50233427A>T	NCBI36
NG_052868.1:g.42431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261837.12:c.375+2T>A MANE Select	ENSP00000261837.7:n.375+2T>A
ENST00000261837.11:c.375+2T>A	ENSP00000261837.7:n.375+2T>A
ENST00000358784.11:c.249+2T>A	ENSP00000351635.7:n.249+2T>A
ENST00000396335.8:c.249+2T>A	ENSP00000379626.4:n.249+2T>A
ENST00000560075.1:n.406+2T>A
ENST00000560116.1:c.249+2T>A	ENSP00000453176.1:n.249+2T>A
ENST00000561313.5:c.249+2T>A	ENSP00000454185.1:n.249+2T>A
NM_006578.3:c.249+2T>A	NP_006569.1:n.249+2T>A
NM_016194.3:c.375+2T>A	NP_057278.2:n.375+2T>A
XM_011521162.1:c.249+2T>A	XP_011519464.1:n.249+2T>A
XM_011521163.1:c.93+2T>A	XP_011519465.1:n.93+2T>A
XM_011521162.3:c.249+2T>A	XP_011519464.1:n.249+2T>A
XM_011521163.3:c.93+2T>A	XP_011519465.1:n.93+2T>A
XR_001751060.2:n.327+2T>A
NM_006578.4:c.249+2T>A	NP_006569.1:n.249+2T>A
NM_016194.4:c.375+2T>A MANE Select	NP_057278.2:n.375+2T>A
NM_001379343.1:c.93+2T>A	NP_001366272.1:n.93+2T>A