Canonical Allele Identifier: CA391462104

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561098G>A , CM000677.2:g.26561098G>A	GRCh38
NC_000015.9:g.26806245G>A , CM000677.1:g.26806245G>A	GRCh37
NC_000015.8:g.24357338G>A	NCBI36
NG_012836.1:g.217683C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.914C>T MANE Select	NP_000805.1:p.Ala305Val
ENST00000311550.10:c.914C>T MANE Select	ENSP00000308725.5:p.Ala305Val
NM_000814.5:c.914C>T	NP_000805.1:p.Ala305Val
NM_001191320.1:c.659C>T	NP_001178249.1:p.Ala220Val
NM_001191320.2:c.659C>T	NP_001178249.1:p.Ala220Val
NM_001191321.2:c.701C>T	NP_001178250.1:p.Ala234Val
NM_001191321.3:c.701C>T	NP_001178250.1:p.Ala234Val
NM_001278631.1:c.659C>T	NP_001265560.1:p.Ala220Val
NM_001278631.2:c.659C>T	NP_001265560.1:p.Ala220Val
NM_021912.4:c.914C>T	NP_068712.1:p.Ala305Val
NM_021912.5:c.914C>T	NP_068712.1:p.Ala305Val
ENST00000299267.8:c.914C>T	ENSP00000299267.4:p.Ala305Val
ENST00000299267.9:c.914C>T	ENSP00000299267.4:p.Ala305Val
ENST00000311550.9:c.914C>T	ENSP00000308725.5:p.Ala305Val
ENST00000400188.7:c.701C>T	ENSP00000383049.3:p.Ala234Val
ENST00000541819.6:c.1082C>T	ENSP00000442408.2:p.Ala361Val
ENST00000545868.4:c.659C>T	ENSP00000439169.1:p.Ala220Val
ENST00000554556.5:c.*375C>T	ENSP00000451077.1:n.*375C>T
ENST00000555094.5:n.826C>T
ENST00000555632.5:c.*746C>T	ENSP00000452041.1:n.*746C>T
ENST00000622697.4:c.659C>T	ENSP00000481004.1:p.Ala220Val
ENST00000628124.2:c.659C>T	ENSP00000486819.1:p.Ala220Val
ENST00000635832.1:n.957C>T
ENST00000635994.1:c.597C>T
ENST00000636466.1:c.659C>T	ENSP00000489768.1:p.Ala220Val
ENST00000638099.1:c.815C>T	ENSP00000490678.1:p.Ala272Val
XM_011521428.1:c.737C>T	XP_011519730.1:p.Ala246Val
XM_011521428.3:c.737C>T	XP_011519730.1:p.Ala246Val