Canonical Allele Identifier: CA391462273

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26806282G>C (hg19) ; chr15:g.26561135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561135G>C , CM000677.2:g.26561135G>C	GRCh38
NC_000015.9:g.26806282G>C , CM000677.1:g.26806282G>C	GRCh37
NC_000015.8:g.24357375G>C	NCBI36
NG_012836.1:g.217646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.877C>G	ENSP00000299267.4:p.Leu293Val
ENST00000311550.10:c.877C>G MANE Select	ENSP00000308725.5:p.Leu293Val
ENST00000635832.1:n.920C>G
ENST00000635994.1:c.560C>G
ENST00000636466.1:c.622C>G	ENSP00000489768.1:p.Leu208Val
ENST00000638099.1:c.778C>G	ENSP00000490678.1:p.Leu260Val
ENST00000299267.8:c.877C>G	ENSP00000299267.4:p.Leu293Val
ENST00000311550.9:c.877C>G	ENSP00000308725.5:p.Leu293Val
ENST00000400188.7:c.664C>G	ENSP00000383049.3:p.Leu222Val
ENST00000541819.6:c.1045C>G	ENSP00000442408.2:p.Leu349Val
ENST00000545868.4:c.622C>G	ENSP00000439169.1:p.Leu208Val
ENST00000554556.5:c.*338C>G	ENSP00000451077.1:n.*338C>G
ENST00000555094.5:n.789C>G
ENST00000555632.5:c.*709C>G	ENSP00000452041.1:n.*709C>G
ENST00000557765.1:n.548C>G
ENST00000622697.4:c.622C>G	ENSP00000481004.1:p.Leu208Val
ENST00000628124.2:c.622C>G	ENSP00000486819.1:p.Leu208Val
NM_000814.5:c.877C>G	NP_000805.1:p.Leu293Val
NM_001191320.1:c.622C>G	NP_001178249.1:p.Leu208Val
NM_001191321.2:c.664C>G	NP_001178250.1:p.Leu222Val
NM_001278631.1:c.622C>G	NP_001265560.1:p.Leu208Val
NM_021912.4:c.877C>G	NP_068712.1:p.Leu293Val
XM_011521428.1:c.700C>G	XP_011519730.1:p.Leu234Val
XM_011521428.3:c.700C>G	XP_011519730.1:p.Leu234Val
NM_000814.6:c.877C>G MANE Select	NP_000805.1:p.Leu293Val
NM_001191321.3:c.664C>G	NP_001178250.1:p.Leu222Val
NM_021912.5:c.877C>G	NP_068712.1:p.Leu293Val
NM_001191320.2:c.622C>G	NP_001178249.1:p.Leu208Val
NM_001278631.2:c.622C>G	NP_001265560.1:p.Leu208Val