Canonical Allele Identifier: CA391463957

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825501T>C (hg19) ; chr15:g.26580354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580354T>C , CM000677.2:g.26580354T>C	GRCh38
NC_000015.9:g.26825501T>C , CM000677.1:g.26825501T>C	GRCh37
NC_000015.8:g.24376594T>C	NCBI36
NG_012836.1:g.198427A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.647A>G	ENSP00000299267.4:p.His216Arg
ENST00000311550.10:c.647A>G MANE Select	ENSP00000308725.5:p.His216Arg
ENST00000635832.1:n.690A>G
ENST00000635994.1:c.330A>G
ENST00000636466.1:c.392A>G	ENSP00000489768.1:p.His131Arg
ENST00000638099.1:c.548A>G	ENSP00000490678.1:p.His183Arg
ENST00000299267.8:c.647A>G	ENSP00000299267.4:p.His216Arg
ENST00000311550.9:c.647A>G	ENSP00000308725.5:p.His216Arg
ENST00000400188.7:c.434A>G	ENSP00000383049.3:p.His145Arg
ENST00000541819.6:c.815A>G	ENSP00000442408.2:p.His272Arg
ENST00000545868.4:c.392A>G	ENSP00000439169.1:p.His131Arg
ENST00000554556.5:c.*108A>G	ENSP00000451077.1:n.*108A>G
ENST00000555094.5:n.559A>G
ENST00000555632.5:c.*479A>G	ENSP00000452041.1:n.*479A>G
ENST00000557765.1:n.318A>G
ENST00000622697.4:c.392A>G	ENSP00000481004.1:p.His131Arg
ENST00000628124.2:c.392A>G	ENSP00000486819.1:p.His131Arg
NM_000814.5:c.647A>G	NP_000805.1:p.His216Arg
NM_001191320.1:c.392A>G	NP_001178249.1:p.His131Arg
NM_001191321.2:c.434A>G	NP_001178250.1:p.His145Arg
NM_001278631.1:c.392A>G	NP_001265560.1:p.His131Arg
NM_021912.4:c.647A>G	NP_068712.1:p.His216Arg
XM_011521428.1:c.470A>G	XP_011519730.1:p.His157Arg
XM_011521428.3:c.470A>G	XP_011519730.1:p.His157Arg
NM_000814.6:c.647A>G MANE Select	NP_000805.1:p.His216Arg
NM_001191321.3:c.434A>G	NP_001178250.1:p.His145Arg
NM_021912.5:c.647A>G	NP_068712.1:p.His216Arg
NM_001191320.2:c.392A>G	NP_001178249.1:p.His131Arg
NM_001278631.2:c.392A>G	NP_001265560.1:p.His131Arg