Canonical Allele Identifier: CA391464110

Gene: GABRB3

Linked Data

• MyVariant Identifiers: chr15:g.26825561C>G (hg19) ; chr15:g.26580414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580414C>G , CM000677.2:g.26580414C>G	GRCh38
NC_000015.9:g.26825561C>G , CM000677.1:g.26825561C>G	GRCh37
NC_000015.8:g.24376654C>G	NCBI36
NG_012836.1:g.198367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.587G>C	ENSP00000299267.4:p.Gly196Ala
ENST00000311550.10:c.587G>C MANE Select	ENSP00000308725.5:p.Gly196Ala
ENST00000635832.1:n.630G>C
ENST00000635994.1:c.270G>C
ENST00000636466.1:c.332G>C	ENSP00000489768.1:p.Gly111Ala
ENST00000638099.1:c.488G>C	ENSP00000490678.1:p.Gly163Ala
ENST00000299267.8:c.587G>C	ENSP00000299267.4:p.Gly196Ala
ENST00000311550.9:c.587G>C	ENSP00000308725.5:p.Gly196Ala
ENST00000400188.7:c.374G>C	ENSP00000383049.3:p.Gly125Ala
ENST00000541819.6:c.755G>C	ENSP00000442408.2:p.Gly252Ala
ENST00000545868.4:c.332G>C	ENSP00000439169.1:p.Gly111Ala
ENST00000554556.5:c.*48G>C	ENSP00000451077.1:n.*48G>C
ENST00000555094.5:n.499G>C
ENST00000555632.5:c.*419G>C	ENSP00000452041.1:n.*419G>C
ENST00000557765.1:n.258G>C
ENST00000622697.4:c.332G>C	ENSP00000481004.1:p.Gly111Ala
ENST00000628124.2:c.332G>C	ENSP00000486819.1:p.Gly111Ala
NM_000814.5:c.587G>C	NP_000805.1:p.Gly196Ala
NM_001191320.1:c.332G>C	NP_001178249.1:p.Gly111Ala
NM_001191321.2:c.374G>C	NP_001178250.1:p.Gly125Ala
NM_001278631.1:c.332G>C	NP_001265560.1:p.Gly111Ala
NM_021912.4:c.587G>C	NP_068712.1:p.Gly196Ala
XM_011521428.1:c.410G>C	XP_011519730.1:p.Gly137Ala
XM_011521428.3:c.410G>C	XP_011519730.1:p.Gly137Ala
NM_000814.6:c.587G>C MANE Select	NP_000805.1:p.Gly196Ala
NM_001191321.3:c.374G>C	NP_001178250.1:p.Gly125Ala
NM_021912.5:c.587G>C	NP_068712.1:p.Gly196Ala
NM_001191320.2:c.332G>C	NP_001178249.1:p.Gly111Ala
NM_001278631.2:c.332G>C	NP_001265560.1:p.Gly111Ala