Canonical Allele Identifier: CA489238759

Gene: GABRB3

Linked Data

• dbSNP Id: rs1344020540
• gnomAD v2: 15-26806253-A-G
• gnomAD v4: 15-26561106-A-G
• MyVariant Identifiers: chr15:g.26806253A>G (hg19) ; chr15:g.26561106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561106A>G , CM000677.2:g.26561106A>G	GRCh38
NC_000015.9:g.26806253A>G , CM000677.1:g.26806253A>G	GRCh37
NC_000015.8:g.24357346A>G	NCBI36
NG_012836.1:g.217675T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.906T>C	ENSP00000299267.4:p.Tyr302=
ENST00000311550.10:c.906T>C MANE Select	ENSP00000308725.5:p.Tyr302=
ENST00000635832.1:n.949T>C
ENST00000635994.1:c.589T>C
ENST00000636466.1:c.651T>C	ENSP00000489768.1:p.Tyr217=
ENST00000638099.1:c.807T>C	ENSP00000490678.1:p.Tyr269=
ENST00000299267.8:c.906T>C	ENSP00000299267.4:p.Tyr302=
ENST00000311550.9:c.906T>C	ENSP00000308725.5:p.Tyr302=
ENST00000400188.7:c.693T>C	ENSP00000383049.3:p.Tyr231=
ENST00000541819.6:c.1074T>C	ENSP00000442408.2:p.Tyr358=
ENST00000545868.4:c.651T>C	ENSP00000439169.1:p.Tyr217=
ENST00000554556.5:c.*367T>C	ENSP00000451077.1:n.*367T>C
ENST00000555094.5:n.818T>C
ENST00000555632.5:c.*738T>C	ENSP00000452041.1:n.*738T>C
ENST00000622697.4:c.651T>C	ENSP00000481004.1:p.Tyr217=
ENST00000628124.2:c.651T>C	ENSP00000486819.1:p.Tyr217=
NM_000814.5:c.906T>C	NP_000805.1:p.Tyr302=
NM_001191320.1:c.651T>C	NP_001178249.1:p.Tyr217=
NM_001191321.2:c.693T>C	NP_001178250.1:p.Tyr231=
NM_001278631.1:c.651T>C	NP_001265560.1:p.Tyr217=
NM_021912.4:c.906T>C	NP_068712.1:p.Tyr302=
XM_011521428.1:c.729T>C	XP_011519730.1:p.Tyr243=
XM_011521428.3:c.729T>C	XP_011519730.1:p.Tyr243=
NM_000814.6:c.906T>C MANE Select	NP_000805.1:p.Tyr302=
NM_001191321.3:c.693T>C	NP_001178250.1:p.Tyr231=
NM_021912.5:c.906T>C	NP_068712.1:p.Tyr302=
NM_001191320.2:c.651T>C	NP_001178249.1:p.Tyr217=
NM_001278631.2:c.651T>C	NP_001265560.1:p.Tyr217=