Canonical Allele Identifier: CA10586388

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580456T>A , CM000677.2:g.26580456T>A	GRCh38
NC_000015.9:g.26825603T>A , CM000677.1:g.26825603T>A	GRCh37
NC_000015.8:g.24376696T>A	NCBI36
NG_012836.1:g.198325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.545A>T	ENSP00000299267.4:p.Tyr182Phe
ENST00000311550.10:c.545A>T MANE Select	ENSP00000308725.5:p.Tyr182Phe
ENST00000635832.1:n.588A>T
ENST00000635994.1:c.228A>T
ENST00000636466.1:c.290A>T	ENSP00000489768.1:p.Tyr97Phe
ENST00000638099.1:c.446A>T	ENSP00000490678.1:p.Tyr149Phe
ENST00000299267.8:c.545A>T	ENSP00000299267.4:p.Tyr182Phe
ENST00000311550.9:c.545A>T	ENSP00000308725.5:p.Tyr182Phe
ENST00000400188.7:c.332A>T	ENSP00000383049.3:p.Tyr111Phe
ENST00000541819.6:c.713A>T	ENSP00000442408.2:p.Tyr238Phe
ENST00000545868.4:c.290A>T	ENSP00000439169.1:p.Tyr97Phe
ENST00000554556.5:c.*6A>T	ENSP00000451077.1:n.*6A>T
ENST00000555094.5:n.457A>T
ENST00000555632.5:c.*377A>T	ENSP00000452041.1:n.*377A>T
ENST00000557765.1:n.216A>T
ENST00000622697.4:c.290A>T	ENSP00000481004.1:p.Tyr97Phe
ENST00000628124.2:c.290A>T	ENSP00000486819.1:p.Tyr97Phe
NM_000814.5:c.545A>T	NP_000805.1:p.Tyr182Phe
NM_001191320.1:c.290A>T	NP_001178249.1:p.Tyr97Phe
NM_001191321.2:c.332A>T	NP_001178250.1:p.Tyr111Phe
NM_001278631.1:c.290A>T	NP_001265560.1:p.Tyr97Phe
NM_021912.4:c.545A>T	NP_068712.1:p.Tyr182Phe
XM_011521428.1:c.368A>T	XP_011519730.1:p.Tyr123Phe
XM_011521428.3:c.368A>T	XP_011519730.1:p.Tyr123Phe
NM_000814.6:c.545A>T MANE Select	NP_000805.1:p.Tyr182Phe
NM_001191321.3:c.332A>T	NP_001178250.1:p.Tyr111Phe
NM_021912.5:c.545A>T	NP_068712.1:p.Tyr182Phe
NM_001191320.2:c.290A>T	NP_001178249.1:p.Tyr97Phe
NM_001278631.2:c.290A>T	NP_001265560.1:p.Tyr97Phe