Canonical Allele Identifier: CA2617346672
Gene: GNB3 HGNC NCBI

Linked Data

gnomAD v4: 12-6843133-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843133G>A , CM000674.2:g.6843133G>A GRCh38
NC_000012.11:g.6952297G>A , CM000674.1:g.6952297G>A GRCh37
NC_000012.10:g.6822558G>A NCBI36
NG_009100.1:g.7923G>A
NG_009100.2:g.7923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.204-41G>A MANE Select ENSP00000229264.3:n.204-41G>A
ENST00000229264.7:c.204-41G>A ENSP00000229264.3:n.204-41G>A
ENST00000435982.6:c.204-41G>A ENSP00000414734.2:n.204-41G>A
ENST00000537035.1:c.204-41G>A ENSP00000445967.1:n.204-41G>A
ENST00000539127.5:c.*224-41G>A ENSP00000444325.1:n.*224-41G>A
ENST00000540458.5:n.1555-41G>A
ENST00000541257.5:c.204-41G>A ENSP00000442002.1:n.204-41G>A
ENST00000541978.5:c.204-41G>A ENSP00000439753.2:n.204-41G>A
NM_001297571.1:c.204-41G>A NP_001284500.1:n.204-41G>A
NM_002075.3:c.204-41G>A NP_002066.1:n.204-41G>A
XM_011520953.1:c.204-41G>A XP_011519255.1:n.204-41G>A
XM_011520954.1:c.204-41G>A XP_011519256.1:n.204-41G>A
XM_011520953.3:c.204-41G>A XP_011519255.1:n.204-41G>A
NM_001297571.2:c.204-41G>A NP_001284500.1:n.204-41G>A
NM_002075.4:c.204-41G>A MANE Select NP_002066.1:n.204-41G>A