Canonical Allele Identifier: CA489071817

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26583399T>G , CM000677.2:g.26583399T>G	GRCh38
NC_000015.9:g.26828546T>G , CM000677.1:g.26828546T>G	GRCh37
NC_000015.8:g.24379639T>G	NCBI36
NG_012836.1:g.195382A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.477A>C MANE Select	NP_000805.1:p.Ala159=
ENST00000311550.10:c.477A>C MANE Select	ENSP00000308725.5:p.Ala159=
NM_000814.5:c.477A>C	NP_000805.1:p.Ala159=
NM_001191320.1:c.222A>C	NP_001178249.1:p.Ala74=
NM_001191320.2:c.222A>C	NP_001178249.1:p.Ala74=
NM_001191321.2:c.264A>C	NP_001178250.1:p.Ala88=
NM_001191321.3:c.264A>C	NP_001178250.1:p.Ala88=
NM_001278631.1:c.222A>C	NP_001265560.1:p.Ala74=
NM_001278631.2:c.222A>C	NP_001265560.1:p.Ala74=
NM_021912.4:c.477A>C	NP_068712.1:p.Ala159=
NM_021912.5:c.477A>C	NP_068712.1:p.Ala159=
ENST00000299267.8:c.477A>C	ENSP00000299267.4:p.Ala159=
ENST00000299267.9:c.477A>C	ENSP00000299267.4:p.Ala159=
ENST00000311550.9:c.477A>C	ENSP00000308725.5:p.Ala159=
ENST00000400188.7:c.264A>C	ENSP00000383049.3:p.Ala88=
ENST00000541819.6:c.645A>C	ENSP00000442408.2:p.Ala215=
ENST00000545868.4:c.222A>C	ENSP00000439169.1:p.Ala74=
ENST00000554556.5:c.256A>C	ENSP00000451077.1:p.Ser86Arg
ENST00000555094.5:n.389A>C
ENST00000555632.5:c.*309A>C	ENSP00000452041.1:n.*309A>C
ENST00000622697.4:c.222A>C	ENSP00000481004.1:p.Ala74=
ENST00000628124.2:c.222A>C	ENSP00000486819.1:p.Ala74=
ENST00000635832.1:n.520A>C
ENST00000635994.1:c.160A>C
ENST00000636466.1:c.222A>C	ENSP00000489768.1:p.Ala74=
ENST00000638099.1:c.378A>C	ENSP00000490678.1:p.Ala126=
XM_011521428.1:c.300A>C	XP_011519730.1:p.Ala100=
XM_011521428.3:c.300A>C	XP_011519730.1:p.Ala100=