Canonical Allele Identifier: CA2165760522

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580381T= , CM000677.2:g.26580381T=	GRCh38
NC_000015.9:g.26825528T= , CM000677.1:g.26825528T=	GRCh37
NC_000015.8:g.24376621T=	NCBI36
NG_012836.1:g.198400A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.620A=	ENSP00000299267.4:p.Glu207=
ENST00000311550.10:c.620A= MANE Select	ENSP00000308725.5:p.Glu207=
ENST00000635832.1:n.663A=
ENST00000635994.1:c.303A=
ENST00000636466.1:c.365A=	ENSP00000489768.1:p.Glu122=
ENST00000638099.1:c.521A=	ENSP00000490678.1:p.Glu174=
ENST00000299267.8:c.620A=	ENSP00000299267.4:p.Glu207=
ENST00000311550.9:c.620A=	ENSP00000308725.5:p.Glu207=
ENST00000400188.7:c.407A=	ENSP00000383049.3:p.Glu136=
ENST00000541819.6:c.788A=	ENSP00000442408.2:p.Glu263=
ENST00000545868.4:c.365A=	ENSP00000439169.1:p.Glu122=
ENST00000554556.5:c.*81A=	ENSP00000451077.1:n.*81A=
ENST00000555094.5:n.532A=
ENST00000555632.5:c.*452A=	ENSP00000452041.1:n.*452A=
ENST00000557765.1:n.291A=
ENST00000622697.4:c.365A=	ENSP00000481004.1:p.Glu122=
ENST00000628124.2:c.365A=	ENSP00000486819.1:p.Glu122=
NM_000814.5:c.620A=	NP_000805.1:p.Glu207=
NM_001191320.1:c.365A=	NP_001178249.1:p.Glu122=
NM_001191321.2:c.407A=	NP_001178250.1:p.Glu136=
NM_001278631.1:c.365A=	NP_001265560.1:p.Glu122=
NM_021912.4:c.620A=	NP_068712.1:p.Glu207=
XM_011521428.1:c.443A=	XP_011519730.1:p.Glu148=
XM_011521428.3:c.443A=	XP_011519730.1:p.Glu148=
NM_000814.6:c.620A= MANE Select	NP_000805.1:p.Glu207=
NM_001191321.3:c.407A=	NP_001178250.1:p.Glu136=
NM_021912.5:c.620A=	NP_068712.1:p.Glu207=
NM_001191320.2:c.365A=	NP_001178249.1:p.Glu122=
NM_001278631.2:c.365A=	NP_001265560.1:p.Glu122=