Canonical Allele Identifier: CA489238757

Gene: GABRB3

Linked Data

• COSMIC: COSM1252981 ; COSM1252982 ; COSM1252983
• MyVariant Identifiers: chr15:g.26806250G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561103G>A , CM000677.2:g.26561103G>A	GRCh38
NC_000015.9:g.26806250G>A , CM000677.1:g.26806250G>A	GRCh37
NC_000015.8:g.24357343G>A	NCBI36
NG_012836.1:g.217678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.909C>T	ENSP00000299267.4:p.Val303=
ENST00000311550.10:c.909C>T MANE Select	ENSP00000308725.5:p.Val303=
ENST00000635832.1:n.952C>T
ENST00000635994.1:c.592C>T
ENST00000636466.1:c.654C>T	ENSP00000489768.1:p.Val218=
ENST00000638099.1:c.810C>T	ENSP00000490678.1:p.Val270=
ENST00000299267.8:c.909C>T	ENSP00000299267.4:p.Val303=
ENST00000311550.9:c.909C>T	ENSP00000308725.5:p.Val303=
ENST00000400188.7:c.696C>T	ENSP00000383049.3:p.Val232=
ENST00000541819.6:c.1077C>T	ENSP00000442408.2:p.Val359=
ENST00000545868.4:c.654C>T	ENSP00000439169.1:p.Val218=
ENST00000554556.5:c.*370C>T	ENSP00000451077.1:n.*370C>T
ENST00000555094.5:n.821C>T
ENST00000555632.5:c.*741C>T	ENSP00000452041.1:n.*741C>T
ENST00000622697.4:c.654C>T	ENSP00000481004.1:p.Val218=
ENST00000628124.2:c.654C>T	ENSP00000486819.1:p.Val218=
NM_000814.5:c.909C>T	NP_000805.1:p.Val303=
NM_001191320.1:c.654C>T	NP_001178249.1:p.Val218=
NM_001191321.2:c.696C>T	NP_001178250.1:p.Val232=
NM_001278631.1:c.654C>T	NP_001265560.1:p.Val218=
NM_021912.4:c.909C>T	NP_068712.1:p.Val303=
XM_011521428.1:c.732C>T	XP_011519730.1:p.Val244=
XM_011521428.3:c.732C>T	XP_011519730.1:p.Val244=
NM_000814.6:c.909C>T MANE Select	NP_000805.1:p.Val303=
NM_001191321.3:c.696C>T	NP_001178250.1:p.Val232=
NM_021912.5:c.909C>T	NP_068712.1:p.Val303=
NM_001191320.2:c.654C>T	NP_001178249.1:p.Val218=
NM_001278631.2:c.654C>T	NP_001265560.1:p.Val218=