Canonical Allele Identifier: CA391463228

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26567658G>T , CM000677.2:g.26567658G>T	GRCh38
NC_000015.9:g.26812805G>T , CM000677.1:g.26812805G>T	GRCh37
NC_000015.8:g.24363898G>T	NCBI36
NG_012836.1:g.211123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.758C>A	ENSP00000299267.4:p.Pro253His
ENST00000311550.10:c.758C>A MANE Select	ENSP00000308725.5:p.Pro253His
ENST00000635832.1:n.801C>A
ENST00000635994.1:c.441C>A
ENST00000636466.1:c.503C>A	ENSP00000489768.1:p.Pro168His
ENST00000638099.1:c.659C>A	ENSP00000490678.1:p.Pro220His
ENST00000299267.8:c.758C>A	ENSP00000299267.4:p.Pro253His
ENST00000311550.9:c.758C>A	ENSP00000308725.5:p.Pro253His
ENST00000400188.7:c.545C>A	ENSP00000383049.3:p.Pro182His
ENST00000541819.6:c.926C>A	ENSP00000442408.2:p.Pro309His
ENST00000545868.4:c.503C>A	ENSP00000439169.1:p.Pro168His
ENST00000554556.5:c.*219C>A	ENSP00000451077.1:n.*219C>A
ENST00000555094.5:n.670C>A
ENST00000555632.5:c.*590C>A	ENSP00000452041.1:n.*590C>A
ENST00000557765.1:n.429C>A
ENST00000622697.4:c.503C>A	ENSP00000481004.1:p.Pro168His
ENST00000628124.2:c.503C>A	ENSP00000486819.1:p.Pro168His
NM_000814.5:c.758C>A	NP_000805.1:p.Pro253His
NM_001191320.1:c.503C>A	NP_001178249.1:p.Pro168His
NM_001191321.2:c.545C>A	NP_001178250.1:p.Pro182His
NM_001278631.1:c.503C>A	NP_001265560.1:p.Pro168His
NM_021912.4:c.758C>A	NP_068712.1:p.Pro253His
XM_011521428.1:c.581C>A	XP_011519730.1:p.Pro194His
XM_011521428.3:c.581C>A	XP_011519730.1:p.Pro194His
NM_000814.6:c.758C>A MANE Select	NP_000805.1:p.Pro253His
NM_001191321.3:c.545C>A	NP_001178250.1:p.Pro182His
NM_021912.5:c.758C>A	NP_068712.1:p.Pro253His
NM_001191320.2:c.503C>A	NP_001178249.1:p.Pro168His
NM_001278631.2:c.503C>A	NP_001265560.1:p.Pro168His