Canonical Allele Identifier: CA2165747266
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26561175C= , CM000677.2:g.26561175C= GRCh38
NC_000015.9:g.26806322C= , CM000677.1:g.26806322C= GRCh37
NC_000015.8:g.24357415C= NCBI36
NG_012836.1:g.217606G=

Transcript Alleles

HGVS Amino-acid change
ENST00000299267.9:c.837G= ENSP00000299267.4:p.Gly279=
ENST00000311550.10:c.837G= MANE Select ENSP00000308725.5:p.Gly279=
ENST00000635832.1:n.880G=
ENST00000635994.1:c.520G=
ENST00000636466.1:c.582G= ENSP00000489768.1:p.Gly194=
ENST00000638099.1:c.738G= ENSP00000490678.1:p.Gly246=
ENST00000299267.8:c.837G= ENSP00000299267.4:p.Gly279=
ENST00000311550.9:c.837G= ENSP00000308725.5:p.Gly279=
ENST00000400188.7:c.624G= ENSP00000383049.3:p.Gly208=
ENST00000541819.6:c.1005G= ENSP00000442408.2:p.Gly335=
ENST00000545868.4:c.582G= ENSP00000439169.1:p.Gly194=
ENST00000554556.5:c.*298G= ENSP00000451077.1:n.*298G=
ENST00000555094.5:n.749G=
ENST00000555632.5:c.*669G= ENSP00000452041.1:n.*669G=
ENST00000557765.1:n.508G=
ENST00000622697.4:c.582G= ENSP00000481004.1:p.Gly194=
ENST00000628124.2:c.582G= ENSP00000486819.1:p.Gly194=
NM_000814.5:c.837G= NP_000805.1:p.Gly279=
NM_001191320.1:c.582G= NP_001178249.1:p.Gly194=
NM_001191321.2:c.624G= NP_001178250.1:p.Gly208=
NM_001278631.1:c.582G= NP_001265560.1:p.Gly194=
NM_021912.4:c.837G= NP_068712.1:p.Gly279=
XM_011521428.1:c.660G= XP_011519730.1:p.Gly220=
XM_011521428.3:c.660G= XP_011519730.1:p.Gly220=
NM_000814.6:c.837G= MANE Select NP_000805.1:p.Gly279=
NM_001191321.3:c.624G= NP_001178250.1:p.Gly208=
NM_021912.5:c.837G= NP_068712.1:p.Gly279=
NM_001191320.2:c.582G= NP_001178249.1:p.Gly194=
NM_001278631.2:c.582G= NP_001265560.1:p.Gly194=