Canonical Allele Identifier: CA2165753926

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567671G= , CM000677.2:g.26567671G=	GRCh38
NC_000015.9:g.26812818G= , CM000677.1:g.26812818G=	GRCh37
NC_000015.8:g.24363911G=	NCBI36
NG_012836.1:g.211110C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.745C= MANE Select	NP_000805.1:p.Gln249=
ENST00000311550.10:c.745C= MANE Select	ENSP00000308725.5:p.Gln249=
NM_000814.5:c.745C=	NP_000805.1:p.Gln249=
NM_001191320.1:c.490C=	NP_001178249.1:p.Gln164=
NM_001191320.2:c.490C=	NP_001178249.1:p.Gln164=
NM_001191321.2:c.532C=	NP_001178250.1:p.Gln178=
NM_001191321.3:c.532C=	NP_001178250.1:p.Gln178=
NM_001278631.1:c.490C=	NP_001265560.1:p.Gln164=
NM_001278631.2:c.490C=	NP_001265560.1:p.Gln164=
NM_021912.4:c.745C=	NP_068712.1:p.Gln249=
NM_021912.5:c.745C=	NP_068712.1:p.Gln249=
ENST00000299267.8:c.745C=	ENSP00000299267.4:p.Gln249=
ENST00000299267.9:c.745C=	ENSP00000299267.4:p.Gln249=
ENST00000311550.9:c.745C=	ENSP00000308725.5:p.Gln249=
ENST00000400188.7:c.532C=	ENSP00000383049.3:p.Gln178=
ENST00000541819.6:c.913C=	ENSP00000442408.2:p.Gln305=
ENST00000545868.4:c.490C=	ENSP00000439169.1:p.Gln164=
ENST00000554556.5:c.*206C=	ENSP00000451077.1:n.*206C=
ENST00000555094.5:n.657C=
ENST00000555632.5:c.*577C=	ENSP00000452041.1:n.*577C=
ENST00000557765.1:n.416C=
ENST00000622697.4:c.490C=	ENSP00000481004.1:p.Gln164=
ENST00000628124.2:c.490C=	ENSP00000486819.1:p.Gln164=
ENST00000635832.1:n.788C=
ENST00000635994.1:c.428C=
ENST00000636466.1:c.490C=	ENSP00000489768.1:p.Gln164=
ENST00000638099.1:c.646C=	ENSP00000490678.1:p.Gln216=
ENST00000638149.1:n.94C=
XM_011521428.1:c.568C=	XP_011519730.1:p.Gln190=
XM_011521428.3:c.568C=	XP_011519730.1:p.Gln190=