Canonical Allele Identifier: CA2165747144

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561111G= , CM000677.2:g.26561111G=	GRCh38
NC_000015.9:g.26806258G= , CM000677.1:g.26806258G=	GRCh37
NC_000015.8:g.24357351G=	NCBI36
NG_012836.1:g.217670C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.901C=	ENSP00000299267.4:p.Pro301=
ENST00000311550.10:c.901C= MANE Select	ENSP00000308725.5:p.Pro301=
ENST00000635832.1:n.944C=
ENST00000635994.1:c.584C=
ENST00000636466.1:c.646C=	ENSP00000489768.1:p.Pro216=
ENST00000638099.1:c.802C=	ENSP00000490678.1:p.Pro268=
ENST00000299267.8:c.901C=	ENSP00000299267.4:p.Pro301=
ENST00000311550.9:c.901C=	ENSP00000308725.5:p.Pro301=
ENST00000400188.7:c.688C=	ENSP00000383049.3:p.Pro230=
ENST00000541819.6:c.1069C=	ENSP00000442408.2:p.Pro357=
ENST00000545868.4:c.646C=	ENSP00000439169.1:p.Pro216=
ENST00000554556.5:c.*362C=	ENSP00000451077.1:n.*362C=
ENST00000555094.5:n.813C=
ENST00000555632.5:c.*733C=	ENSP00000452041.1:n.*733C=
ENST00000622697.4:c.646C=	ENSP00000481004.1:p.Pro216=
ENST00000628124.2:c.646C=	ENSP00000486819.1:p.Pro216=
NM_000814.5:c.901C=	NP_000805.1:p.Pro301=
NM_001191320.1:c.646C=	NP_001178249.1:p.Pro216=
NM_001191321.2:c.688C=	NP_001178250.1:p.Pro230=
NM_001278631.1:c.646C=	NP_001265560.1:p.Pro216=
NM_021912.4:c.901C=	NP_068712.1:p.Pro301=
XM_011521428.1:c.724C=	XP_011519730.1:p.Pro242=
XM_011521428.3:c.724C=	XP_011519730.1:p.Pro242=
NM_000814.6:c.901C= MANE Select	NP_000805.1:p.Pro301=
NM_001191321.3:c.688C=	NP_001178250.1:p.Pro230=
NM_021912.5:c.901C=	NP_068712.1:p.Pro301=
NM_001191320.2:c.646C=	NP_001178249.1:p.Pro216=
NM_001278631.2:c.646C=	NP_001265560.1:p.Pro216=