Canonical Allele Identifier: CA489071766

Gene: GABRB3

Linked Data

• dbSNP Id: rs1338829599
• gnomAD v2: 15-26825572-G-A
• gnomAD v4: 15-26580425-G-A
• MyVariant Identifiers: chr15:g.26825572G>A (hg19) ; chr15:g.26580425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580425G>A , CM000677.2:g.26580425G>A	GRCh38
NC_000015.9:g.26825572G>A , CM000677.1:g.26825572G>A	GRCh37
NC_000015.8:g.24376665G>A	NCBI36
NG_012836.1:g.198356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.576C>T	ENSP00000299267.4:p.Tyr192=
ENST00000311550.10:c.576C>T MANE Select	ENSP00000308725.5:p.Tyr192=
ENST00000635832.1:n.619C>T
ENST00000635994.1:c.259C>T
ENST00000636466.1:c.321C>T	ENSP00000489768.1:p.Tyr107=
ENST00000638099.1:c.477C>T	ENSP00000490678.1:p.Tyr159=
ENST00000299267.8:c.576C>T	ENSP00000299267.4:p.Tyr192=
ENST00000311550.9:c.576C>T	ENSP00000308725.5:p.Tyr192=
ENST00000400188.7:c.363C>T	ENSP00000383049.3:p.Tyr121=
ENST00000541819.6:c.744C>T	ENSP00000442408.2:p.Tyr248=
ENST00000545868.4:c.321C>T	ENSP00000439169.1:p.Tyr107=
ENST00000554556.5:c.*37C>T	ENSP00000451077.1:n.*37C>T
ENST00000555094.5:n.488C>T
ENST00000555632.5:c.*408C>T	ENSP00000452041.1:n.*408C>T
ENST00000557765.1:n.247C>T
ENST00000622697.4:c.321C>T	ENSP00000481004.1:p.Tyr107=
ENST00000628124.2:c.321C>T	ENSP00000486819.1:p.Tyr107=
NM_000814.5:c.576C>T	NP_000805.1:p.Tyr192=
NM_001191320.1:c.321C>T	NP_001178249.1:p.Tyr107=
NM_001191321.2:c.363C>T	NP_001178250.1:p.Tyr121=
NM_001278631.1:c.321C>T	NP_001265560.1:p.Tyr107=
NM_021912.4:c.576C>T	NP_068712.1:p.Tyr192=
XM_011521428.1:c.399C>T	XP_011519730.1:p.Tyr133=
XM_011521428.3:c.399C>T	XP_011519730.1:p.Tyr133=
NM_000814.6:c.576C>T MANE Select	NP_000805.1:p.Tyr192=
NM_001191321.3:c.363C>T	NP_001178250.1:p.Tyr121=
NM_021912.5:c.576C>T	NP_068712.1:p.Tyr192=
NM_001191320.2:c.321C>T	NP_001178249.1:p.Tyr107=
NM_001278631.2:c.321C>T	NP_001265560.1:p.Tyr107=