Canonical Allele Identifier: CA16619911

Gene: GABRB3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.758C>T	ENSP00000299267.4:p.Pro253Leu
ENST00000311550.10:c.758C>T MANE Select	ENSP00000308725.5:p.Pro253Leu
ENST00000635832.1:n.801C>T
ENST00000635994.1:c.441C>T
ENST00000636466.1:c.503C>T	ENSP00000489768.1:p.Pro168Leu
ENST00000638099.1:c.659C>T	ENSP00000490678.1:p.Pro220Leu
ENST00000299267.8:c.758C>T	ENSP00000299267.4:p.Pro253Leu
ENST00000311550.9:c.758C>T	ENSP00000308725.5:p.Pro253Leu
ENST00000400188.7:c.545C>T	ENSP00000383049.3:p.Pro182Leu
ENST00000541819.6:c.926C>T	ENSP00000442408.2:p.Pro309Leu
ENST00000545868.4:c.503C>T	ENSP00000439169.1:p.Pro168Leu
ENST00000554556.5:c.*219C>T	ENSP00000451077.1:n.*219C>T
ENST00000555094.5:n.670C>T
ENST00000555632.5:c.*590C>T	ENSP00000452041.1:n.*590C>T
ENST00000557765.1:n.429C>T
ENST00000622697.4:c.503C>T	ENSP00000481004.1:p.Pro168Leu
ENST00000628124.2:c.503C>T	ENSP00000486819.1:p.Pro168Leu
NM_000814.5:c.758C>T	NP_000805.1:p.Pro253Leu
NM_001191320.1:c.503C>T	NP_001178249.1:p.Pro168Leu
NM_001191321.2:c.545C>T	NP_001178250.1:p.Pro182Leu
NM_001278631.1:c.503C>T	NP_001265560.1:p.Pro168Leu
NM_021912.4:c.758C>T	NP_068712.1:p.Pro253Leu
XM_011521428.1:c.581C>T	XP_011519730.1:p.Pro194Leu
XM_011521428.3:c.581C>T	XP_011519730.1:p.Pro194Leu
NM_000814.6:c.758C>T MANE Select	NP_000805.1:p.Pro253Leu
NM_001191321.3:c.545C>T	NP_001178250.1:p.Pro182Leu
NM_021912.5:c.758C>T	NP_068712.1:p.Pro253Leu
NM_001191320.2:c.503C>T	NP_001178249.1:p.Pro168Leu
NM_001278631.2:c.503C>T	NP_001265560.1:p.Pro168Leu