Canonical Allele Identifier: CA391462257

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561131C>G , CM000677.2:g.26561131C>G	GRCh38
NC_000015.9:g.26806278C>G , CM000677.1:g.26806278C>G	GRCh37
NC_000015.8:g.24357371C>G	NCBI36
NG_012836.1:g.217650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.881G>C	ENSP00000299267.4:p.Arg294Pro
ENST00000311550.10:c.881G>C MANE Select	ENSP00000308725.5:p.Arg294Pro
ENST00000635832.1:n.924G>C
ENST00000635994.1:c.564G>C
ENST00000636466.1:c.626G>C	ENSP00000489768.1:p.Arg209Pro
ENST00000638099.1:c.782G>C	ENSP00000490678.1:p.Arg261Pro
ENST00000299267.8:c.881G>C	ENSP00000299267.4:p.Arg294Pro
ENST00000311550.9:c.881G>C	ENSP00000308725.5:p.Arg294Pro
ENST00000400188.7:c.668G>C	ENSP00000383049.3:p.Arg223Pro
ENST00000541819.6:c.1049G>C	ENSP00000442408.2:p.Arg350Pro
ENST00000545868.4:c.626G>C	ENSP00000439169.1:p.Arg209Pro
ENST00000554556.5:c.*342G>C	ENSP00000451077.1:n.*342G>C
ENST00000555094.5:n.793G>C
ENST00000555632.5:c.*713G>C	ENSP00000452041.1:n.*713G>C
ENST00000557765.1:n.552G>C
ENST00000622697.4:c.626G>C	ENSP00000481004.1:p.Arg209Pro
ENST00000628124.2:c.626G>C	ENSP00000486819.1:p.Arg209Pro
NM_000814.5:c.881G>C	NP_000805.1:p.Arg294Pro
NM_001191320.1:c.626G>C	NP_001178249.1:p.Arg209Pro
NM_001191321.2:c.668G>C	NP_001178250.1:p.Arg223Pro
NM_001278631.1:c.626G>C	NP_001265560.1:p.Arg209Pro
NM_021912.4:c.881G>C	NP_068712.1:p.Arg294Pro
XM_011521428.1:c.704G>C	XP_011519730.1:p.Arg235Pro
XM_011521428.3:c.704G>C	XP_011519730.1:p.Arg235Pro
NM_000814.6:c.881G>C MANE Select	NP_000805.1:p.Arg294Pro
NM_001191321.3:c.668G>C	NP_001178250.1:p.Arg223Pro
NM_021912.5:c.881G>C	NP_068712.1:p.Arg294Pro
NM_001191320.2:c.626G>C	NP_001178249.1:p.Arg209Pro
NM_001278631.2:c.626G>C	NP_001265560.1:p.Arg209Pro