Canonical Allele Identifier: CA16607760

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567721C>T , CM000677.2:g.26567721C>T	GRCh38
NC_000015.9:g.26812868C>T , CM000677.1:g.26812868C>T	GRCh37
NC_000015.8:g.24363961C>T	NCBI36
NG_012836.1:g.211060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.695G>A	ENSP00000299267.4:p.Arg232Gln
ENST00000311550.10:c.695G>A MANE Select	ENSP00000308725.5:p.Arg232Gln
ENST00000635832.1:n.738G>A
ENST00000635994.1:c.378G>A
ENST00000636466.1:c.440G>A	ENSP00000489768.1:p.Arg147Gln
ENST00000638099.1:c.596G>A	ENSP00000490678.1:p.Arg199Gln
ENST00000638149.1:n.44G>A
ENST00000299267.8:c.695G>A	ENSP00000299267.4:p.Arg232Gln
ENST00000311550.9:c.695G>A	ENSP00000308725.5:p.Arg232Gln
ENST00000400188.7:c.482G>A	ENSP00000383049.3:p.Arg161Gln
ENST00000541819.6:c.863G>A	ENSP00000442408.2:p.Arg288Gln
ENST00000545868.4:c.440G>A	ENSP00000439169.1:p.Arg147Gln
ENST00000554556.5:c.*156G>A	ENSP00000451077.1:n.*156G>A
ENST00000555094.5:n.607G>A
ENST00000555632.5:c.*527G>A	ENSP00000452041.1:n.*527G>A
ENST00000557765.1:n.366G>A
ENST00000622697.4:c.440G>A	ENSP00000481004.1:p.Arg147Gln
ENST00000628124.2:c.440G>A	ENSP00000486819.1:p.Arg147Gln
NM_000814.5:c.695G>A	NP_000805.1:p.Arg232Gln
NM_001191320.1:c.440G>A	NP_001178249.1:p.Arg147Gln
NM_001191321.2:c.482G>A	NP_001178250.1:p.Arg161Gln
NM_001278631.1:c.440G>A	NP_001265560.1:p.Arg147Gln
NM_021912.4:c.695G>A	NP_068712.1:p.Arg232Gln
XM_011521428.1:c.518G>A	XP_011519730.1:p.Arg173Gln
XM_011521428.3:c.518G>A	XP_011519730.1:p.Arg173Gln
NM_000814.6:c.695G>A MANE Select	NP_000805.1:p.Arg232Gln
NM_001191321.3:c.482G>A	NP_001178250.1:p.Arg161Gln
NM_021912.5:c.695G>A	NP_068712.1:p.Arg232Gln
NM_001191320.2:c.440G>A	NP_001178249.1:p.Arg147Gln
NM_001278631.2:c.440G>A	NP_001265560.1:p.Arg147Gln