Canonical Allele Identifier: CA391465504

Gene: GABRB3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000814.6:c.94G>T MANE Select	NP_000805.1:p.Gly32Trp
ENST00000311550.10:c.94G>T MANE Select	ENSP00000308725.5:p.Gly32Trp
NM_000814.5:c.94G>T	NP_000805.1:p.Gly32Trp
NM_001278631.1:c.-258G>T	NP_001265560.1:n.-258G>T
NM_001278631.2:c.-258G>T	NP_001265560.1:n.-258G>T
NM_021912.4:c.94G>T	NP_068712.1:p.Gly32Trp
NM_021912.5:c.94G>T	NP_068712.1:p.Gly32Trp
ENST00000299267.8:c.94G>T	ENSP00000299267.4:p.Gly32Trp
ENST00000299267.9:c.94G>T	ENSP00000299267.4:p.Gly32Trp
ENST00000311550.9:c.94G>T	ENSP00000308725.5:p.Gly32Trp
ENST00000541819.6:c.262G>T	ENSP00000442408.2:p.Gly88Trp
ENST00000554556.5:c.94G>T	ENSP00000451077.1:p.Gly32Trp
ENST00000554722.1:n.121G>T
ENST00000555632.5:c.94G>T	ENSP00000452041.1:p.Gly32Trp
ENST00000557641.5:n.466G>T
ENST00000622697.4:c.-258G>T	ENSP00000481004.1:n.-258G>T
ENST00000638099.1:c.-6G>T	ENSP00000490678.1:n.-6G>T