Canonical Allele Identifier: CA711611493
Gene: GABRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26683789C>G , CM000677.2:g.26683789C>G GRCh38
NC_000015.9:g.26928936C>G , CM000677.1:g.26928936C>G GRCh37
NC_000015.8:g.24480029C>G NCBI36
NG_012836.1:g.94992G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299267.9:c.241-62255G>C ENSP00000299267.4:n.241-62255G>C
ENST00000311550.10:c.241-62255G>C MANE Select ENSP00000308725.5:n.241-62255G>C
ENST00000636466.1:c.-15-62255G>C ENSP00000489768.1:n.-15-62255G>C
ENST00000638099.1:c.142-62255G>C ENSP00000490678.1:n.142-62255G>C
ENST00000299267.8:c.241-62255G>C ENSP00000299267.4:n.241-62255G>C
ENST00000311550.9:c.241-62255G>C ENSP00000308725.5:n.241-62255G>C
ENST00000541819.6:c.409-62255G>C ENSP00000442408.2:n.409-62255G>C
ENST00000545868.4:c.-15-62255G>C ENSP00000439169.1:n.-15-62255G>C
ENST00000554556.5:c.240+88613G>C ENSP00000451077.1:n.240+88613G>C
ENST00000555094.5:n.152+32825G>C
ENST00000555632.5:c.241-41261G>C ENSP00000452041.1:n.241-41261G>C
ENST00000622697.4:c.-111-41261G>C ENSP00000481004.1:n.-111-41261G>C
ENST00000628124.2:c.-16+32825G>C ENSP00000486819.1:n.-16+32825G>C
NM_000814.5:c.241-62255G>C NP_000805.1:n.241-62255G>C
NM_001191320.1:c.-16+32825G>C NP_001178249.1:n.-16+32825G>C
NM_001278631.1:c.-111-41261G>C NP_001265560.1:n.-111-41261G>C
NM_021912.4:c.241-62255G>C NP_068712.1:n.241-62255G>C
NM_000814.6:c.241-62255G>C MANE Select NP_000805.1:n.241-62255G>C
NM_021912.5:c.241-62255G>C NP_068712.1:n.241-62255G>C
NM_001191320.2:c.-16+32825G>C NP_001178249.1:n.-16+32825G>C
NM_001278631.2:c.-111-41261G>C NP_001265560.1:n.-111-41261G>C