Canonical Allele Identifier: CA489071720

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 2949926
• ClinVar RCV Id: RCV003807284
• dbSNP Id: rs1890743749
• gnomAD v4: 15-26580356-C-T
• MyVariant Identifiers: chr15:g.26825503C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580356C>T , CM000677.2:g.26580356C>T	GRCh38
NC_000015.9:g.26825503C>T , CM000677.1:g.26825503C>T	GRCh37
NC_000015.8:g.24376596C>T	NCBI36
NG_012836.1:g.198425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.645G>A	ENSP00000299267.4:p.Glu215=
ENST00000311550.10:c.645G>A MANE Select	ENSP00000308725.5:p.Glu215=
ENST00000635832.1:n.688G>A
ENST00000635994.1:c.328G>A
ENST00000636466.1:c.390G>A	ENSP00000489768.1:p.Glu130=
ENST00000638099.1:c.546G>A	ENSP00000490678.1:p.Glu182=
ENST00000299267.8:c.645G>A	ENSP00000299267.4:p.Glu215=
ENST00000311550.9:c.645G>A	ENSP00000308725.5:p.Glu215=
ENST00000400188.7:c.432G>A	ENSP00000383049.3:p.Glu144=
ENST00000541819.6:c.813G>A	ENSP00000442408.2:p.Glu271=
ENST00000545868.4:c.390G>A	ENSP00000439169.1:p.Glu130=
ENST00000554556.5:c.*106G>A	ENSP00000451077.1:n.*106G>A
ENST00000555094.5:n.557G>A
ENST00000555632.5:c.*477G>A	ENSP00000452041.1:n.*477G>A
ENST00000557765.1:n.316G>A
ENST00000622697.4:c.390G>A	ENSP00000481004.1:p.Glu130=
ENST00000628124.2:c.390G>A	ENSP00000486819.1:p.Glu130=
NM_000814.5:c.645G>A	NP_000805.1:p.Glu215=
NM_001191320.1:c.390G>A	NP_001178249.1:p.Glu130=
NM_001191321.2:c.432G>A	NP_001178250.1:p.Glu144=
NM_001278631.1:c.390G>A	NP_001265560.1:p.Glu130=
NM_021912.4:c.645G>A	NP_068712.1:p.Glu215=
XM_011521428.1:c.468G>A	XP_011519730.1:p.Glu156=
XM_011521428.3:c.468G>A	XP_011519730.1:p.Glu156=
NM_000814.6:c.645G>A MANE Select	NP_000805.1:p.Glu215=
NM_001191321.3:c.432G>A	NP_001178250.1:p.Glu144=
NM_021912.5:c.645G>A	NP_068712.1:p.Glu215=
NM_001191320.2:c.390G>A	NP_001178249.1:p.Glu130=
NM_001278631.2:c.390G>A	NP_001265560.1:p.Glu130=