Canonical Allele Identifier: CA7437393

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 384398
• ClinVar RCV Id: RCV001393462 ; RCV001703846
• dbSNP Id: rs144001770
• ExAC: 15:26825500 G / A
• gnomAD v2: 15-26825500-G-A
• gnomAD v3: 15-26580353-G-A
• gnomAD v4: 15-26580353-G-A
• MyVariant Identifiers: chr15:g.26825500G>A (hg19) ; chr15:g.26580353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580353G>A , CM000677.2:g.26580353G>A	GRCh38
NC_000015.9:g.26825500G>A , CM000677.1:g.26825500G>A	GRCh37
NC_000015.8:g.24376593G>A	NCBI36
NG_012836.1:g.198428C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.648C>T	ENSP00000299267.4:p.His216=
ENST00000311550.10:c.648C>T MANE Select	ENSP00000308725.5:p.His216=
ENST00000635832.1:n.691C>T
ENST00000635994.1:c.331C>T
ENST00000636466.1:c.393C>T	ENSP00000489768.1:p.His131=
ENST00000638099.1:c.549C>T	ENSP00000490678.1:p.His183=
ENST00000299267.8:c.648C>T	ENSP00000299267.4:p.His216=
ENST00000311550.9:c.648C>T	ENSP00000308725.5:p.His216=
ENST00000400188.7:c.435C>T	ENSP00000383049.3:p.His145=
ENST00000541819.6:c.816C>T	ENSP00000442408.2:p.His272=
ENST00000545868.4:c.393C>T	ENSP00000439169.1:p.His131=
ENST00000554556.5:c.*109C>T	ENSP00000451077.1:n.*109C>T
ENST00000555094.5:n.560C>T
ENST00000555632.5:c.*480C>T	ENSP00000452041.1:n.*480C>T
ENST00000557765.1:n.319C>T
ENST00000622697.4:c.393C>T	ENSP00000481004.1:p.His131=
ENST00000628124.2:c.393C>T	ENSP00000486819.1:p.His131=
NM_000814.5:c.648C>T	NP_000805.1:p.His216=
NM_001191320.1:c.393C>T	NP_001178249.1:p.His131=
NM_001191321.2:c.435C>T	NP_001178250.1:p.His145=
NM_001278631.1:c.393C>T	NP_001265560.1:p.His131=
NM_021912.4:c.648C>T	NP_068712.1:p.His216=
XM_011521428.1:c.471C>T	XP_011519730.1:p.His157=
XM_011521428.3:c.471C>T	XP_011519730.1:p.His157=
NM_000814.6:c.648C>T MANE Select	NP_000805.1:p.His216=
NM_001191321.3:c.435C>T	NP_001178250.1:p.His145=
NM_021912.5:c.648C>T	NP_068712.1:p.His216=
NM_001191320.2:c.393C>T	NP_001178249.1:p.His131=
NM_001278631.2:c.393C>T	NP_001265560.1:p.His131=