Canonical Allele Identifier: CA391462204

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 2011043
• ClinVar RCV Id: RCV002851181
• MyVariant Identifiers: chr15:g.26806267G>A (hg19) ; chr15:g.26561120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561120G>A , CM000677.2:g.26561120G>A	GRCh38
NC_000015.9:g.26806267G>A , CM000677.1:g.26806267G>A	GRCh37
NC_000015.8:g.24357360G>A	NCBI36
NG_012836.1:g.217661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.892C>T	ENSP00000299267.4:p.Pro298Ser
ENST00000311550.10:c.892C>T MANE Select	ENSP00000308725.5:p.Pro298Ser
ENST00000635832.1:n.935C>T
ENST00000635994.1:c.575C>T
ENST00000636466.1:c.637C>T	ENSP00000489768.1:p.Pro213Ser
ENST00000638099.1:c.793C>T	ENSP00000490678.1:p.Pro265Ser
ENST00000299267.8:c.892C>T	ENSP00000299267.4:p.Pro298Ser
ENST00000311550.9:c.892C>T	ENSP00000308725.5:p.Pro298Ser
ENST00000400188.7:c.679C>T	ENSP00000383049.3:p.Pro227Ser
ENST00000541819.6:c.1060C>T	ENSP00000442408.2:p.Pro354Ser
ENST00000545868.4:c.637C>T	ENSP00000439169.1:p.Pro213Ser
ENST00000554556.5:c.*353C>T	ENSP00000451077.1:n.*353C>T
ENST00000555094.5:n.804C>T
ENST00000555632.5:c.*724C>T	ENSP00000452041.1:n.*724C>T
ENST00000622697.4:c.637C>T	ENSP00000481004.1:p.Pro213Ser
ENST00000628124.2:c.637C>T	ENSP00000486819.1:p.Pro213Ser
NM_000814.5:c.892C>T	NP_000805.1:p.Pro298Ser
NM_001191320.1:c.637C>T	NP_001178249.1:p.Pro213Ser
NM_001191321.2:c.679C>T	NP_001178250.1:p.Pro227Ser
NM_001278631.1:c.637C>T	NP_001265560.1:p.Pro213Ser
NM_021912.4:c.892C>T	NP_068712.1:p.Pro298Ser
XM_011521428.1:c.715C>T	XP_011519730.1:p.Pro239Ser
XM_011521428.3:c.715C>T	XP_011519730.1:p.Pro239Ser
NM_000814.6:c.892C>T MANE Select	NP_000805.1:p.Pro298Ser
NM_001191321.3:c.679C>T	NP_001178250.1:p.Pro227Ser
NM_021912.5:c.892C>T	NP_068712.1:p.Pro298Ser
NM_001191320.2:c.637C>T	NP_001178249.1:p.Pro213Ser
NM_001278631.2:c.637C>T	NP_001265560.1:p.Pro213Ser