Canonical Allele Identifier: CA2165753987

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567721C= , CM000677.2:g.26567721C=	GRCh38
NC_000015.9:g.26812868C= , CM000677.1:g.26812868C=	GRCh37
NC_000015.8:g.24363961C=	NCBI36
NG_012836.1:g.211060G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.695G= MANE Select	NP_000805.1:p.Arg232=
ENST00000311550.10:c.695G= MANE Select	ENSP00000308725.5:p.Arg232=
NM_000814.5:c.695G=	NP_000805.1:p.Arg232=
NM_001191320.1:c.440G=	NP_001178249.1:p.Arg147=
NM_001191320.2:c.440G=	NP_001178249.1:p.Arg147=
NM_001191321.2:c.482G=	NP_001178250.1:p.Arg161=
NM_001191321.3:c.482G=	NP_001178250.1:p.Arg161=
NM_001278631.1:c.440G=	NP_001265560.1:p.Arg147=
NM_001278631.2:c.440G=	NP_001265560.1:p.Arg147=
NM_021912.4:c.695G=	NP_068712.1:p.Arg232=
NM_021912.5:c.695G=	NP_068712.1:p.Arg232=
ENST00000299267.8:c.695G=	ENSP00000299267.4:p.Arg232=
ENST00000299267.9:c.695G=	ENSP00000299267.4:p.Arg232=
ENST00000311550.9:c.695G=	ENSP00000308725.5:p.Arg232=
ENST00000400188.7:c.482G=	ENSP00000383049.3:p.Arg161=
ENST00000541819.6:c.863G=	ENSP00000442408.2:p.Arg288=
ENST00000545868.4:c.440G=	ENSP00000439169.1:p.Arg147=
ENST00000554556.5:c.*156G=	ENSP00000451077.1:n.*156G=
ENST00000555094.5:n.607G=
ENST00000555632.5:c.*527G=	ENSP00000452041.1:n.*527G=
ENST00000557765.1:n.366G=
ENST00000622697.4:c.440G=	ENSP00000481004.1:p.Arg147=
ENST00000628124.2:c.440G=	ENSP00000486819.1:p.Arg147=
ENST00000635832.1:n.738G=
ENST00000635994.1:c.378G=
ENST00000636466.1:c.440G=	ENSP00000489768.1:p.Arg147=
ENST00000638099.1:c.596G=	ENSP00000490678.1:p.Arg199=
ENST00000638149.1:n.44G=
XM_011521428.1:c.518G=	XP_011519730.1:p.Arg173=
XM_011521428.3:c.518G=	XP_011519730.1:p.Arg173=