Canonical Allele Identifier: CA391465505
Gene: GABRB3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26772759C>G , CM000677.2:g.26772759C>G GRCh38
NC_000015.9:g.27017906C>G , CM000677.1:g.27017906C>G GRCh37
NC_000015.8:g.24568999C>G NCBI36
NG_012836.1:g.6022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299267.9:c.94G>C ENSP00000299267.4:p.Gly32Arg
ENST00000311550.10:c.94G>C MANE Select ENSP00000308725.5:p.Gly32Arg
ENST00000638099.1:c.-6G>C ENSP00000490678.1:n.-6G>C
ENST00000299267.8:c.94G>C ENSP00000299267.4:p.Gly32Arg
ENST00000311550.9:c.94G>C ENSP00000308725.5:p.Gly32Arg
ENST00000541819.6:c.262G>C ENSP00000442408.2:p.Gly88Arg
ENST00000554556.5:c.94G>C ENSP00000451077.1:p.Gly32Arg
ENST00000554722.1:n.121G>C
ENST00000555632.5:c.94G>C ENSP00000452041.1:p.Gly32Arg
ENST00000557641.5:n.466G>C
ENST00000622697.4:c.-258G>C ENSP00000481004.1:n.-258G>C
NM_000814.5:c.94G>C NP_000805.1:p.Gly32Arg
NM_001278631.1:c.-258G>C NP_001265560.1:n.-258G>C
NM_021912.4:c.94G>C NP_068712.1:p.Gly32Arg
NM_000814.6:c.94G>C MANE Select NP_000805.1:p.Gly32Arg
NM_021912.5:c.94G>C NP_068712.1:p.Gly32Arg
NM_001278631.2:c.-258G>C NP_001265560.1:n.-258G>C