Canonical Allele Identifier: CA478155804
Gene: GNB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6952235T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843071T>C , CM000674.2:g.6843071T>C GRCh38
NC_000012.11:g.6952235T>C , CM000674.1:g.6952235T>C GRCh37
NC_000012.10:g.6822496T>C NCBI36
NG_009100.1:g.7861T>C
NG_009100.2:g.7861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.198T>C MANE Select ENSP00000229264.3:p.Asp66=
ENST00000229264.7:c.198T>C ENSP00000229264.3:p.Asp66=
ENST00000435982.6:c.198T>C ENSP00000414734.2:p.Asp66=
ENST00000537035.1:c.198T>C ENSP00000445967.1:p.Asp66=
ENST00000539127.5:c.*218T>C ENSP00000444325.1:n.*218T>C
ENST00000540458.5:n.1549T>C
ENST00000541257.5:c.198T>C ENSP00000442002.1:p.Asp66=
ENST00000541978.5:c.198T>C ENSP00000439753.2:p.Asp66=
NM_001297571.1:c.198T>C NP_001284500.1:p.Asp66=
NM_002075.3:c.198T>C NP_002066.1:p.Asp66=
XM_011520953.1:c.198T>C XP_011519255.1:p.Asp66=
XM_011520954.1:c.198T>C XP_011519256.1:p.Asp66=
XM_011520953.3:c.198T>C XP_011519255.1:p.Asp66=
NM_001297571.2:c.198T>C NP_001284500.1:p.Asp66=
NM_002075.4:c.198T>C MANE Select NP_002066.1:p.Asp66=