Canonical Allele Identifier: CA2165834536
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26706191T>G , CM000677.2:g.26706191T>G GRCh38
NC_000015.9:g.26951338T>G , CM000677.1:g.26951338T>G GRCh37
NC_000015.8:g.24502431T>G NCBI36
NG_012836.1:g.72590A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299267.9:c.240+66211A>C ENSP00000299267.4:n.240+66211A>C
ENST00000311550.10:c.240+66211A>C MANE Select ENSP00000308725.5:n.240+66211A>C
ENST00000636466.1:c.-16+65808A>C ENSP00000489768.1:n.-16+65808A>C
ENST00000638099.1:c.141+66211A>C ENSP00000490678.1:n.141+66211A>C
ENST00000299267.8:c.240+66211A>C ENSP00000299267.4:n.240+66211A>C
ENST00000311550.9:c.240+66211A>C ENSP00000308725.5:n.240+66211A>C
ENST00000541819.6:c.408+66211A>C ENSP00000442408.2:n.408+66211A>C
ENST00000545868.4:c.-16+60961A>C ENSP00000439169.1:n.-16+60961A>C
ENST00000554556.5:c.240+66211A>C ENSP00000451077.1:n.240+66211A>C
ENST00000555094.5:n.152+10423A>C
ENST00000555632.5:c.241-63663A>C ENSP00000452041.1:n.241-63663A>C
ENST00000622697.4:c.-111-63663A>C ENSP00000481004.1:n.-111-63663A>C
ENST00000628124.2:c.-16+10423A>C ENSP00000486819.1:n.-16+10423A>C
NM_000814.5:c.240+66211A>C NP_000805.1:n.240+66211A>C
NM_001191320.1:c.-16+10423A>C NP_001178249.1:n.-16+10423A>C
NM_001278631.1:c.-111-63663A>C NP_001265560.1:n.-111-63663A>C
NM_021912.4:c.240+66211A>C NP_068712.1:n.240+66211A>C
NM_000814.6:c.240+66211A>C MANE Select NP_000805.1:n.240+66211A>C
NM_021912.5:c.240+66211A>C NP_068712.1:n.240+66211A>C
NM_001191320.2:c.-16+10423A>C NP_001178249.1:n.-16+10423A>C
NM_001278631.2:c.-111-63663A>C NP_001265560.1:n.-111-63663A>C