Canonical Allele Identifier: CA16042907
Gene: GABRB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372868
ClinVar RCV Id: RCV000413814
dbSNP Id: rs1057518036

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26561174T>A , CM000677.2:g.26561174T>A GRCh38
NC_000015.9:g.26806321T>A , CM000677.1:g.26806321T>A GRCh37
NC_000015.8:g.24357414T>A NCBI36
NG_012836.1:g.217607A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299267.9:c.838A>T ENSP00000299267.4:p.Ile280Phe
ENST00000311550.10:c.838A>T MANE Select ENSP00000308725.5:p.Ile280Phe
ENST00000635832.1:n.881A>T
ENST00000635994.1:c.521A>T
ENST00000636466.1:c.583A>T ENSP00000489768.1:p.Ile195Phe
ENST00000638099.1:c.739A>T ENSP00000490678.1:p.Ile247Phe
ENST00000299267.8:c.838A>T ENSP00000299267.4:p.Ile280Phe
ENST00000311550.9:c.838A>T ENSP00000308725.5:p.Ile280Phe
ENST00000400188.7:c.625A>T ENSP00000383049.3:p.Ile209Phe
ENST00000541819.6:c.1006A>T ENSP00000442408.2:p.Ile336Phe
ENST00000545868.4:c.583A>T ENSP00000439169.1:p.Ile195Phe
ENST00000554556.5:c.*299A>T ENSP00000451077.1:n.*299A>T
ENST00000555094.5:n.750A>T
ENST00000555632.5:c.*670A>T ENSP00000452041.1:n.*670A>T
ENST00000557765.1:n.509A>T
ENST00000622697.4:c.583A>T ENSP00000481004.1:p.Ile195Phe
ENST00000628124.2:c.583A>T ENSP00000486819.1:p.Ile195Phe
NM_000814.5:c.838A>T NP_000805.1:p.Ile280Phe
NM_001191320.1:c.583A>T NP_001178249.1:p.Ile195Phe
NM_001191321.2:c.625A>T NP_001178250.1:p.Ile209Phe
NM_001278631.1:c.583A>T NP_001265560.1:p.Ile195Phe
NM_021912.4:c.838A>T NP_068712.1:p.Ile280Phe
XM_011521428.1:c.661A>T XP_011519730.1:p.Ile221Phe
XM_011521428.3:c.661A>T XP_011519730.1:p.Ile221Phe
NM_000814.6:c.838A>T MANE Select NP_000805.1:p.Ile280Phe
NM_001191321.3:c.625A>T NP_001178250.1:p.Ile209Phe
NM_021912.5:c.838A>T NP_068712.1:p.Ile280Phe
NM_001191320.2:c.583A>T NP_001178249.1:p.Ile195Phe
NM_001278631.2:c.583A>T NP_001265560.1:p.Ile195Phe