Canonical Allele Identifier: CA391462346

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26806306T>A (hg19) ; chr15:g.26561159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561159T>A , CM000677.2:g.26561159T>A	GRCh38
NC_000015.9:g.26806306T>A , CM000677.1:g.26806306T>A	GRCh37
NC_000015.8:g.24357399T>A	NCBI36
NG_012836.1:g.217622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.853A>T	ENSP00000299267.4:p.Thr285Ser
ENST00000311550.10:c.853A>T MANE Select	ENSP00000308725.5:p.Thr285Ser
ENST00000635832.1:n.896A>T
ENST00000635994.1:c.536A>T
ENST00000636466.1:c.598A>T	ENSP00000489768.1:p.Thr200Ser
ENST00000638099.1:c.754A>T	ENSP00000490678.1:p.Thr252Ser
ENST00000299267.8:c.853A>T	ENSP00000299267.4:p.Thr285Ser
ENST00000311550.9:c.853A>T	ENSP00000308725.5:p.Thr285Ser
ENST00000400188.7:c.640A>T	ENSP00000383049.3:p.Thr214Ser
ENST00000541819.6:c.1021A>T	ENSP00000442408.2:p.Thr341Ser
ENST00000545868.4:c.598A>T	ENSP00000439169.1:p.Thr200Ser
ENST00000554556.5:c.*314A>T	ENSP00000451077.1:n.*314A>T
ENST00000555094.5:n.765A>T
ENST00000555632.5:c.*685A>T	ENSP00000452041.1:n.*685A>T
ENST00000557765.1:n.524A>T
ENST00000622697.4:c.598A>T	ENSP00000481004.1:p.Thr200Ser
ENST00000628124.2:c.598A>T	ENSP00000486819.1:p.Thr200Ser
NM_000814.5:c.853A>T	NP_000805.1:p.Thr285Ser
NM_001191320.1:c.598A>T	NP_001178249.1:p.Thr200Ser
NM_001191321.2:c.640A>T	NP_001178250.1:p.Thr214Ser
NM_001278631.1:c.598A>T	NP_001265560.1:p.Thr200Ser
NM_021912.4:c.853A>T	NP_068712.1:p.Thr285Ser
XM_011521428.1:c.676A>T	XP_011519730.1:p.Thr226Ser
XM_011521428.3:c.676A>T	XP_011519730.1:p.Thr226Ser
NM_000814.6:c.853A>T MANE Select	NP_000805.1:p.Thr285Ser
NM_001191321.3:c.640A>T	NP_001178250.1:p.Thr214Ser
NM_021912.5:c.853A>T	NP_068712.1:p.Thr285Ser
NM_001191320.2:c.598A>T	NP_001178249.1:p.Thr200Ser
NM_001278631.2:c.598A>T	NP_001265560.1:p.Thr200Ser