Canonical Allele Identifier: CA2165747109

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561099C= , CM000677.2:g.26561099C=	GRCh38
NC_000015.9:g.26806246C= , CM000677.1:g.26806246C=	GRCh37
NC_000015.8:g.24357339C=	NCBI36
NG_012836.1:g.217682G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.913G= MANE Select	NP_000805.1:p.Ala305=
ENST00000311550.10:c.913G= MANE Select	ENSP00000308725.5:p.Ala305=
NM_000814.5:c.913G=	NP_000805.1:p.Ala305=
NM_001191320.1:c.658G=	NP_001178249.1:p.Ala220=
NM_001191320.2:c.658G=	NP_001178249.1:p.Ala220=
NM_001191321.2:c.700G=	NP_001178250.1:p.Ala234=
NM_001191321.3:c.700G=	NP_001178250.1:p.Ala234=
NM_001278631.1:c.658G=	NP_001265560.1:p.Ala220=
NM_001278631.2:c.658G=	NP_001265560.1:p.Ala220=
NM_021912.4:c.913G=	NP_068712.1:p.Ala305=
NM_021912.5:c.913G=	NP_068712.1:p.Ala305=
ENST00000299267.8:c.913G=	ENSP00000299267.4:p.Ala305=
ENST00000299267.9:c.913G=	ENSP00000299267.4:p.Ala305=
ENST00000311550.9:c.913G=	ENSP00000308725.5:p.Ala305=
ENST00000400188.7:c.700G=	ENSP00000383049.3:p.Ala234=
ENST00000541819.6:c.1081G=	ENSP00000442408.2:p.Ala361=
ENST00000545868.4:c.658G=	ENSP00000439169.1:p.Ala220=
ENST00000554556.5:c.*374G=	ENSP00000451077.1:n.*374G=
ENST00000555094.5:n.825G=
ENST00000555632.5:c.*745G=	ENSP00000452041.1:n.*745G=
ENST00000622697.4:c.658G=	ENSP00000481004.1:p.Ala220=
ENST00000628124.2:c.658G=	ENSP00000486819.1:p.Ala220=
ENST00000635832.1:n.956G=
ENST00000635994.1:c.596G=
ENST00000636466.1:c.658G=	ENSP00000489768.1:p.Ala220=
ENST00000638099.1:c.814G=	ENSP00000490678.1:p.Ala272=
XM_011521428.1:c.736G=	XP_011519730.1:p.Ala246=
XM_011521428.3:c.736G=	XP_011519730.1:p.Ala246=