Canonical Allele Identifier: CA2165753892

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567655G= , CM000677.2:g.26567655G=	GRCh38
NC_000015.9:g.26812802G= , CM000677.1:g.26812802G=	GRCh37
NC_000015.8:g.24363895G=	NCBI36
NG_012836.1:g.211126C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.761C= MANE Select	NP_000805.1:p.Ser254=
ENST00000311550.10:c.761C= MANE Select	ENSP00000308725.5:p.Ser254=
NM_000814.5:c.761C=	NP_000805.1:p.Ser254=
NM_001191320.1:c.506C=	NP_001178249.1:p.Ser169=
NM_001191320.2:c.506C=	NP_001178249.1:p.Ser169=
NM_001191321.2:c.548C=	NP_001178250.1:p.Ser183=
NM_001191321.3:c.548C=	NP_001178250.1:p.Ser183=
NM_001278631.1:c.506C=	NP_001265560.1:p.Ser169=
NM_001278631.2:c.506C=	NP_001265560.1:p.Ser169=
NM_021912.4:c.761C=	NP_068712.1:p.Ser254=
NM_021912.5:c.761C=	NP_068712.1:p.Ser254=
ENST00000299267.8:c.761C=	ENSP00000299267.4:p.Ser254=
ENST00000299267.9:c.761C=	ENSP00000299267.4:p.Ser254=
ENST00000311550.9:c.761C=	ENSP00000308725.5:p.Ser254=
ENST00000400188.7:c.548C=	ENSP00000383049.3:p.Ser183=
ENST00000541819.6:c.929C=	ENSP00000442408.2:p.Ser310=
ENST00000545868.4:c.506C=	ENSP00000439169.1:p.Ser169=
ENST00000554556.5:c.*222C=	ENSP00000451077.1:n.*222C=
ENST00000555094.5:n.673C=
ENST00000555632.5:c.*593C=	ENSP00000452041.1:n.*593C=
ENST00000557765.1:n.432C=
ENST00000622697.4:c.506C=	ENSP00000481004.1:p.Ser169=
ENST00000628124.2:c.506C=	ENSP00000486819.1:p.Ser169=
ENST00000635832.1:n.804C=
ENST00000635994.1:c.444C=
ENST00000636466.1:c.506C=	ENSP00000489768.1:p.Ser169=
ENST00000638099.1:c.662C=	ENSP00000490678.1:p.Ser221=
XM_011521428.1:c.584C=	XP_011519730.1:p.Ser195=
XM_011521428.3:c.584C=	XP_011519730.1:p.Ser195=