Canonical Allele Identifier: CA967935361

Gene: GABRB3

Linked Data

• dbSNP Id: rs1890752705
• gnomAD v3: 15-26580544-G-A
• gnomAD v4: 15-26580544-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580544G>A , CM000677.2:g.26580544G>A	GRCh38
NC_000015.9:g.26825691G>A , CM000677.1:g.26825691G>A	GRCh37
NC_000015.8:g.24376784G>A	NCBI36
NG_012836.1:g.198237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.545-88C>T	ENSP00000299267.4:n.545-88C>T
ENST00000311550.10:c.545-88C>T MANE Select	ENSP00000308725.5:n.545-88C>T
ENST00000635832.1:n.588-88C>T
ENST00000635994.1:c.228-88C>T
ENST00000636466.1:c.290-88C>T	ENSP00000489768.1:n.290-88C>T
ENST00000638099.1:c.446-88C>T	ENSP00000490678.1:n.446-88C>T
ENST00000299267.8:c.545-88C>T	ENSP00000299267.4:n.545-88C>T
ENST00000311550.9:c.545-88C>T	ENSP00000308725.5:n.545-88C>T
ENST00000400188.7:c.332-88C>T	ENSP00000383049.3:n.332-88C>T
ENST00000541819.6:c.713-88C>T	ENSP00000442408.2:n.713-88C>T
ENST00000545868.4:c.290-88C>T	ENSP00000439169.1:n.290-88C>T
ENST00000554556.5:c.*6-88C>T	ENSP00000451077.1:n.*6-88C>T
ENST00000555094.5:n.457-88C>T
ENST00000555632.5:c.*377-88C>T	ENSP00000452041.1:n.*377-88C>T
ENST00000557765.1:n.128C>T
ENST00000622697.4:c.290-88C>T	ENSP00000481004.1:n.290-88C>T
ENST00000628124.2:c.290-88C>T	ENSP00000486819.1:n.290-88C>T
NM_000814.5:c.545-88C>T	NP_000805.1:n.545-88C>T
NM_001191320.1:c.290-88C>T	NP_001178249.1:n.290-88C>T
NM_001191321.2:c.332-88C>T	NP_001178250.1:n.332-88C>T
NM_001278631.1:c.290-88C>T	NP_001265560.1:n.290-88C>T
NM_021912.4:c.545-88C>T	NP_068712.1:n.545-88C>T
XM_011521428.1:c.368-88C>T	XP_011519730.1:n.368-88C>T
XM_011521428.3:c.368-88C>T	XP_011519730.1:n.368-88C>T
NM_000814.6:c.545-88C>T MANE Select	NP_000805.1:n.545-88C>T
NM_001191321.3:c.332-88C>T	NP_001178250.1:n.332-88C>T
NM_021912.5:c.545-88C>T	NP_068712.1:n.545-88C>T
NM_001191320.2:c.290-88C>T	NP_001178249.1:n.290-88C>T
NM_001278631.2:c.290-88C>T	NP_001265560.1:n.290-88C>T