Canonical Allele Identifier: CA14095659

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26766994C>T , CM000677.2:g.26766994C>T	GRCh38
NC_000015.9:g.27012141C>T , CM000677.1:g.27012141C>T	GRCh37
NC_000015.8:g.24563234C>T	NCBI36
NG_012836.1:g.11787G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.240+5408G>A	ENSP00000299267.4:n.240+5408G>A
ENST00000311550.10:c.240+5408G>A MANE Select	ENSP00000308725.5:n.240+5408G>A
ENST00000636466.1:c.-16+5005G>A	ENSP00000489768.1:n.-16+5005G>A
ENST00000638099.1:c.141+5408G>A	ENSP00000490678.1:n.141+5408G>A
ENST00000299267.8:c.240+5408G>A	ENSP00000299267.4:n.240+5408G>A
ENST00000311550.9:c.240+5408G>A	ENSP00000308725.5:n.240+5408G>A
ENST00000541819.6:c.408+5408G>A	ENSP00000442408.2:n.408+5408G>A
ENST00000545868.4:c.-16+158G>A	ENSP00000439169.1:n.-16+158G>A
ENST00000554556.5:c.240+5408G>A	ENSP00000451077.1:n.240+5408G>A
ENST00000555632.5:c.240+5408G>A	ENSP00000452041.1:n.240+5408G>A
ENST00000557641.5:n.612+5408G>A
ENST00000622697.4:c.-112+5408G>A	ENSP00000481004.1:n.-112+5408G>A
NM_000814.5:c.240+5408G>A	NP_000805.1:n.240+5408G>A
NM_001278631.1:c.-112+5408G>A	NP_001265560.1:n.-112+5408G>A
NM_021912.4:c.240+5408G>A	NP_068712.1:n.240+5408G>A
XR_002957720.1:n.4799+330G>A
NM_000814.6:c.240+5408G>A MANE Select	NP_000805.1:n.240+5408G>A
NM_021912.5:c.240+5408G>A	NP_068712.1:n.240+5408G>A
NM_001278631.2:c.-112+5408G>A	NP_001265560.1:n.-112+5408G>A