Canonical Allele Identifier: CA2165760512

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580361C= , CM000677.2:g.26580361C=	GRCh38
NC_000015.9:g.26825508C= , CM000677.1:g.26825508C=	GRCh37
NC_000015.8:g.24376601C=	NCBI36
NG_012836.1:g.198420G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.640G=	ENSP00000299267.4:p.Val214=
ENST00000311550.10:c.640G= MANE Select	ENSP00000308725.5:p.Val214=
ENST00000635832.1:n.683G=
ENST00000635994.1:c.323G=
ENST00000636466.1:c.385G=	ENSP00000489768.1:p.Val129=
ENST00000638099.1:c.541G=	ENSP00000490678.1:p.Val181=
ENST00000299267.8:c.640G=	ENSP00000299267.4:p.Val214=
ENST00000311550.9:c.640G=	ENSP00000308725.5:p.Val214=
ENST00000400188.7:c.427G=	ENSP00000383049.3:p.Val143=
ENST00000541819.6:c.808G=	ENSP00000442408.2:p.Val270=
ENST00000545868.4:c.385G=	ENSP00000439169.1:p.Val129=
ENST00000554556.5:c.*101G=	ENSP00000451077.1:n.*101G=
ENST00000555094.5:n.552G=
ENST00000555632.5:c.*472G=	ENSP00000452041.1:n.*472G=
ENST00000557765.1:n.311G=
ENST00000622697.4:c.385G=	ENSP00000481004.1:p.Val129=
ENST00000628124.2:c.385G=	ENSP00000486819.1:p.Val129=
NM_000814.5:c.640G=	NP_000805.1:p.Val214=
NM_001191320.1:c.385G=	NP_001178249.1:p.Val129=
NM_001191321.2:c.427G=	NP_001178250.1:p.Val143=
NM_001278631.1:c.385G=	NP_001265560.1:p.Val129=
NM_021912.4:c.640G=	NP_068712.1:p.Val214=
XM_011521428.1:c.463G=	XP_011519730.1:p.Val155=
XM_011521428.3:c.463G=	XP_011519730.1:p.Val155=
NM_000814.6:c.640G= MANE Select	NP_000805.1:p.Val214=
NM_001191321.3:c.427G=	NP_001178250.1:p.Val143=
NM_021912.5:c.640G=	NP_068712.1:p.Val214=
NM_001191320.2:c.385G=	NP_001178249.1:p.Val129=
NM_001278631.2:c.385G=	NP_001265560.1:p.Val129=