Canonical Allele Identifier: CA391458114

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26583397G>T , CM000677.2:g.26583397G>T	GRCh38
NC_000015.9:g.26828544G>T , CM000677.1:g.26828544G>T	GRCh37
NC_000015.8:g.24379637G>T	NCBI36
NG_012836.1:g.195384C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.479C>A MANE Select	NP_000805.1:p.Ala160Glu
ENST00000311550.10:c.479C>A MANE Select	ENSP00000308725.5:p.Ala160Glu
NM_000814.5:c.479C>A	NP_000805.1:p.Ala160Glu
NM_001191320.1:c.224C>A	NP_001178249.1:p.Ala75Glu
NM_001191320.2:c.224C>A	NP_001178249.1:p.Ala75Glu
NM_001191321.2:c.266C>A	NP_001178250.1:p.Ala89Glu
NM_001191321.3:c.266C>A	NP_001178250.1:p.Ala89Glu
NM_001278631.1:c.224C>A	NP_001265560.1:p.Ala75Glu
NM_001278631.2:c.224C>A	NP_001265560.1:p.Ala75Glu
NM_021912.4:c.479C>A	NP_068712.1:p.Ala160Glu
NM_021912.5:c.479C>A	NP_068712.1:p.Ala160Glu
ENST00000299267.8:c.479C>A	ENSP00000299267.4:p.Ala160Glu
ENST00000299267.9:c.479C>A	ENSP00000299267.4:p.Ala160Glu
ENST00000311550.9:c.479C>A	ENSP00000308725.5:p.Ala160Glu
ENST00000400188.7:c.266C>A	ENSP00000383049.3:p.Ala89Glu
ENST00000541819.6:c.647C>A	ENSP00000442408.2:p.Ala216Glu
ENST00000545868.4:c.224C>A	ENSP00000439169.1:p.Ala75Glu
ENST00000554556.5:c.258C>A	ENSP00000451077.1:p.Ser86Arg
ENST00000555094.5:n.391C>A
ENST00000555632.5:c.*311C>A	ENSP00000452041.1:n.*311C>A
ENST00000622697.4:c.224C>A	ENSP00000481004.1:p.Ala75Glu
ENST00000628124.2:c.224C>A	ENSP00000486819.1:p.Ala75Glu
ENST00000635832.1:n.522C>A
ENST00000635994.1:c.162C>A
ENST00000636466.1:c.224C>A	ENSP00000489768.1:p.Ala75Glu
ENST00000638099.1:c.380C>A	ENSP00000490678.1:p.Ala127Glu
XM_011521428.1:c.302C>A	XP_011519730.1:p.Ala101Glu
XM_011521428.3:c.302C>A	XP_011519730.1:p.Ala101Glu