Canonical Allele Identifier: CA391463953

Gene: GABRB3

Linked Data

• COSMIC: COSM389148 ; COSM6141983 ; COSM6141984
• MyVariant Identifiers: chr15:g.26825499G>T (hg19) ; chr15:g.26580352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580352G>T , CM000677.2:g.26580352G>T	GRCh38
NC_000015.9:g.26825499G>T , CM000677.1:g.26825499G>T	GRCh37
NC_000015.8:g.24376592G>T	NCBI36
NG_012836.1:g.198429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.649C>A	ENSP00000299267.4:p.Arg217Ser
ENST00000311550.10:c.649C>A MANE Select	ENSP00000308725.5:p.Arg217Ser
ENST00000635832.1:n.692C>A
ENST00000635994.1:c.332C>A
ENST00000636466.1:c.394C>A	ENSP00000489768.1:p.Arg132Ser
ENST00000638099.1:c.550C>A	ENSP00000490678.1:p.Arg184Ser
ENST00000299267.8:c.649C>A	ENSP00000299267.4:p.Arg217Ser
ENST00000311550.9:c.649C>A	ENSP00000308725.5:p.Arg217Ser
ENST00000400188.7:c.436C>A	ENSP00000383049.3:p.Arg146Ser
ENST00000541819.6:c.817C>A	ENSP00000442408.2:p.Arg273Ser
ENST00000545868.4:c.394C>A	ENSP00000439169.1:p.Arg132Ser
ENST00000554556.5:c.*110C>A	ENSP00000451077.1:n.*110C>A
ENST00000555094.5:n.561C>A
ENST00000555632.5:c.*481C>A	ENSP00000452041.1:n.*481C>A
ENST00000557765.1:n.320C>A
ENST00000622697.4:c.394C>A	ENSP00000481004.1:p.Arg132Ser
ENST00000628124.2:c.394C>A	ENSP00000486819.1:p.Arg132Ser
NM_000814.5:c.649C>A	NP_000805.1:p.Arg217Ser
NM_001191320.1:c.394C>A	NP_001178249.1:p.Arg132Ser
NM_001191321.2:c.436C>A	NP_001178250.1:p.Arg146Ser
NM_001278631.1:c.394C>A	NP_001265560.1:p.Arg132Ser
NM_021912.4:c.649C>A	NP_068712.1:p.Arg217Ser
XM_011521428.1:c.472C>A	XP_011519730.1:p.Arg158Ser
XM_011521428.3:c.472C>A	XP_011519730.1:p.Arg158Ser
NM_000814.6:c.649C>A MANE Select	NP_000805.1:p.Arg217Ser
NM_001191321.3:c.436C>A	NP_001178250.1:p.Arg146Ser
NM_021912.5:c.649C>A	NP_068712.1:p.Arg217Ser
NM_001191320.2:c.394C>A	NP_001178249.1:p.Arg132Ser
NM_001278631.2:c.394C>A	NP_001265560.1:p.Arg132Ser