Canonical Allele Identifier: CA2165753904

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567658G= , CM000677.2:g.26567658G=	GRCh38
NC_000015.9:g.26812805G= , CM000677.1:g.26812805G=	GRCh37
NC_000015.8:g.24363898G=	NCBI36
NG_012836.1:g.211123C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.758C= MANE Select	NP_000805.1:p.Pro253=
ENST00000311550.10:c.758C= MANE Select	ENSP00000308725.5:p.Pro253=
NM_000814.5:c.758C=	NP_000805.1:p.Pro253=
NM_001191320.1:c.503C=	NP_001178249.1:p.Pro168=
NM_001191320.2:c.503C=	NP_001178249.1:p.Pro168=
NM_001191321.2:c.545C=	NP_001178250.1:p.Pro182=
NM_001191321.3:c.545C=	NP_001178250.1:p.Pro182=
NM_001278631.1:c.503C=	NP_001265560.1:p.Pro168=
NM_001278631.2:c.503C=	NP_001265560.1:p.Pro168=
NM_021912.4:c.758C=	NP_068712.1:p.Pro253=
NM_021912.5:c.758C=	NP_068712.1:p.Pro253=
ENST00000299267.8:c.758C=	ENSP00000299267.4:p.Pro253=
ENST00000299267.9:c.758C=	ENSP00000299267.4:p.Pro253=
ENST00000311550.9:c.758C=	ENSP00000308725.5:p.Pro253=
ENST00000400188.7:c.545C=	ENSP00000383049.3:p.Pro182=
ENST00000541819.6:c.926C=	ENSP00000442408.2:p.Pro309=
ENST00000545868.4:c.503C=	ENSP00000439169.1:p.Pro168=
ENST00000554556.5:c.*219C=	ENSP00000451077.1:n.*219C=
ENST00000555094.5:n.670C=
ENST00000555632.5:c.*590C=	ENSP00000452041.1:n.*590C=
ENST00000557765.1:n.429C=
ENST00000622697.4:c.503C=	ENSP00000481004.1:p.Pro168=
ENST00000628124.2:c.503C=	ENSP00000486819.1:p.Pro168=
ENST00000635832.1:n.801C=
ENST00000635994.1:c.441C=
ENST00000636466.1:c.503C=	ENSP00000489768.1:p.Pro168=
ENST00000638099.1:c.659C=	ENSP00000490678.1:p.Pro220=
XM_011521428.1:c.581C=	XP_011519730.1:p.Pro194=
XM_011521428.3:c.581C=	XP_011519730.1:p.Pro194=