Canonical Allele Identifier: CA391463975

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825509G>C (hg19) ; chr15:g.26580362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580362G>C , CM000677.2:g.26580362G>C	GRCh38
NC_000015.9:g.26825509G>C , CM000677.1:g.26825509G>C	GRCh37
NC_000015.8:g.24376602G>C	NCBI36
NG_012836.1:g.198419C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.639C>G	ENSP00000299267.4:p.Ile213Met
ENST00000311550.10:c.639C>G MANE Select	ENSP00000308725.5:p.Ile213Met
ENST00000635832.1:n.682C>G
ENST00000635994.1:c.322C>G
ENST00000636466.1:c.384C>G	ENSP00000489768.1:p.Ile128Met
ENST00000638099.1:c.540C>G	ENSP00000490678.1:p.Ile180Met
ENST00000299267.8:c.639C>G	ENSP00000299267.4:p.Ile213Met
ENST00000311550.9:c.639C>G	ENSP00000308725.5:p.Ile213Met
ENST00000400188.7:c.426C>G	ENSP00000383049.3:p.Ile142Met
ENST00000541819.6:c.807C>G	ENSP00000442408.2:p.Ile269Met
ENST00000545868.4:c.384C>G	ENSP00000439169.1:p.Ile128Met
ENST00000554556.5:c.*100C>G	ENSP00000451077.1:n.*100C>G
ENST00000555094.5:n.551C>G
ENST00000555632.5:c.*471C>G	ENSP00000452041.1:n.*471C>G
ENST00000557765.1:n.310C>G
ENST00000622697.4:c.384C>G	ENSP00000481004.1:p.Ile128Met
ENST00000628124.2:c.384C>G	ENSP00000486819.1:p.Ile128Met
NM_000814.5:c.639C>G	NP_000805.1:p.Ile213Met
NM_001191320.1:c.384C>G	NP_001178249.1:p.Ile128Met
NM_001191321.2:c.426C>G	NP_001178250.1:p.Ile142Met
NM_001278631.1:c.384C>G	NP_001265560.1:p.Ile128Met
NM_021912.4:c.639C>G	NP_068712.1:p.Ile213Met
XM_011521428.1:c.462C>G	XP_011519730.1:p.Ile154Met
XM_011521428.3:c.462C>G	XP_011519730.1:p.Ile154Met
NM_000814.6:c.639C>G MANE Select	NP_000805.1:p.Ile213Met
NM_001191321.3:c.426C>G	NP_001178250.1:p.Ile142Met
NM_021912.5:c.639C>G	NP_068712.1:p.Ile213Met
NM_001191320.2:c.384C>G	NP_001178249.1:p.Ile128Met
NM_001278631.2:c.384C>G	NP_001265560.1:p.Ile128Met