Canonical Allele Identifier: CA2165747258

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561174T= , CM000677.2:g.26561174T=	GRCh38
NC_000015.9:g.26806321T= , CM000677.1:g.26806321T=	GRCh37
NC_000015.8:g.24357414T=	NCBI36
NG_012836.1:g.217607A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.838A=	ENSP00000299267.4:p.Ile280=
ENST00000311550.10:c.838A= MANE Select	ENSP00000308725.5:p.Ile280=
ENST00000635832.1:n.881A=
ENST00000635994.1:c.521A=
ENST00000636466.1:c.583A=	ENSP00000489768.1:p.Ile195=
ENST00000638099.1:c.739A=	ENSP00000490678.1:p.Ile247=
ENST00000299267.8:c.838A=	ENSP00000299267.4:p.Ile280=
ENST00000311550.9:c.838A=	ENSP00000308725.5:p.Ile280=
ENST00000400188.7:c.625A=	ENSP00000383049.3:p.Ile209=
ENST00000541819.6:c.1006A=	ENSP00000442408.2:p.Ile336=
ENST00000545868.4:c.583A=	ENSP00000439169.1:p.Ile195=
ENST00000554556.5:c.*299A=	ENSP00000451077.1:n.*299A=
ENST00000555094.5:n.750A=
ENST00000555632.5:c.*670A=	ENSP00000452041.1:n.*670A=
ENST00000557765.1:n.509A=
ENST00000622697.4:c.583A=	ENSP00000481004.1:p.Ile195=
ENST00000628124.2:c.583A=	ENSP00000486819.1:p.Ile195=
NM_000814.5:c.838A=	NP_000805.1:p.Ile280=
NM_001191320.1:c.583A=	NP_001178249.1:p.Ile195=
NM_001191321.2:c.625A=	NP_001178250.1:p.Ile209=
NM_001278631.1:c.583A=	NP_001265560.1:p.Ile195=
NM_021912.4:c.838A=	NP_068712.1:p.Ile280=
XM_011521428.1:c.661A=	XP_011519730.1:p.Ile221=
XM_011521428.3:c.661A=	XP_011519730.1:p.Ile221=
NM_000814.6:c.838A= MANE Select	NP_000805.1:p.Ile280=
NM_001191321.3:c.625A=	NP_001178250.1:p.Ile209=
NM_021912.5:c.838A=	NP_068712.1:p.Ile280=
NM_001191320.2:c.583A=	NP_001178249.1:p.Ile195=
NM_001278631.2:c.583A=	NP_001265560.1:p.Ile195=