Canonical Allele Identifier: CA7437345

Gene: GABRB3

Linked Data

• dbSNP Id: rs748390802
• ExAC: 15:26806322 C / A
• gnomAD v2: 15-26806322-C-A
• gnomAD v4: 15-26561175-C-A
• MyVariant Identifiers: chr15:g.26806322C>A (hg19) ; chr15:g.26561175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561175C>A , CM000677.2:g.26561175C>A	GRCh38
NC_000015.9:g.26806322C>A , CM000677.1:g.26806322C>A	GRCh37
NC_000015.8:g.24357415C>A	NCBI36
NG_012836.1:g.217606G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.837G>T	ENSP00000299267.4:p.Gly279=
ENST00000311550.10:c.837G>T MANE Select	ENSP00000308725.5:p.Gly279=
ENST00000635832.1:n.880G>T
ENST00000635994.1:c.520G>T
ENST00000636466.1:c.582G>T	ENSP00000489768.1:p.Gly194=
ENST00000638099.1:c.738G>T	ENSP00000490678.1:p.Gly246=
ENST00000299267.8:c.837G>T	ENSP00000299267.4:p.Gly279=
ENST00000311550.9:c.837G>T	ENSP00000308725.5:p.Gly279=
ENST00000400188.7:c.624G>T	ENSP00000383049.3:p.Gly208=
ENST00000541819.6:c.1005G>T	ENSP00000442408.2:p.Gly335=
ENST00000545868.4:c.582G>T	ENSP00000439169.1:p.Gly194=
ENST00000554556.5:c.*298G>T	ENSP00000451077.1:n.*298G>T
ENST00000555094.5:n.749G>T
ENST00000555632.5:c.*669G>T	ENSP00000452041.1:n.*669G>T
ENST00000557765.1:n.508G>T
ENST00000622697.4:c.582G>T	ENSP00000481004.1:p.Gly194=
ENST00000628124.2:c.582G>T	ENSP00000486819.1:p.Gly194=
NM_000814.5:c.837G>T	NP_000805.1:p.Gly279=
NM_001191320.1:c.582G>T	NP_001178249.1:p.Gly194=
NM_001191321.2:c.624G>T	NP_001178250.1:p.Gly208=
NM_001278631.1:c.582G>T	NP_001265560.1:p.Gly194=
NM_021912.4:c.837G>T	NP_068712.1:p.Gly279=
XM_011521428.1:c.660G>T	XP_011519730.1:p.Gly220=
XM_011521428.3:c.660G>T	XP_011519730.1:p.Gly220=
NM_000814.6:c.837G>T MANE Select	NP_000805.1:p.Gly279=
NM_001191321.3:c.624G>T	NP_001178250.1:p.Gly208=
NM_021912.5:c.837G>T	NP_068712.1:p.Gly279=
NM_001191320.2:c.582G>T	NP_001178249.1:p.Gly194=
NM_001278631.2:c.582G>T	NP_001265560.1:p.Gly194=