Canonical Allele Identifier: CA6417364
Community Standard Title: NM_002075.4(GNB3):c.81C>T (p.Asp27=)
Gene: GNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6841609C>T , CM000674.2:g.6841609C>T GRCh38
NC_000012.11:g.6950773C>T , CM000674.1:g.6950773C>T GRCh37
NC_000012.10:g.6821034C>T NCBI36
NG_009100.1:g.6399C>T
NG_033740.1:g.18237C>T
NG_009100.2:g.6399C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.81C>T MANE Select NP_002066.1:p.Asp27=
ENST00000229264.8:c.81C>T MANE Select ENSP00000229264.3:p.Asp27=
NM_001297571.1:c.81C>T NP_001284500.1:p.Asp27=
NM_001297571.2:c.81C>T NP_001284500.1:p.Asp27=
NM_002075.3:c.81C>T NP_002066.1:p.Asp27=
ENST00000229264.7:c.81C>T ENSP00000229264.3:p.Asp27=
ENST00000435982.6:c.81C>T ENSP00000414734.2:p.Asp27=
ENST00000537035.1:c.81C>T ENSP00000445967.1:p.Asp27=
ENST00000539127.5:c.81C>T ENSP00000444325.1:p.Asp27=
ENST00000540458.5:n.1432C>T
ENST00000541257.5:c.81C>T ENSP00000442002.1:p.Asp27=
ENST00000541978.5:c.81C>T ENSP00000439753.2:p.Asp27=
ENST00000542868.1:n.569C>T
ENST00000675241.1:c.81C>T ENSP00000501677.1:p.Asp27=
XM_011520953.1:c.81C>T XP_011519255.1:p.Asp27=
XM_011520953.3:c.81C>T XP_011519255.1:p.Asp27=
XM_011520954.1:c.81C>T XP_011519256.1:p.Asp27=