Canonical Allele Identifier: CA2465839655

Gene: GABRE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.151961350G= , CM000685.2:g.151961350G=	GRCh38
NC_000023.10:g.151129822G= , CM000685.1:g.151129822G=	GRCh37
NC_000023.9:g.150880478G=	NCBI36
NG_012511.1:g.18330C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370328.4:c.579C= MANE Select	ENSP00000359353.3:p.Ala193=
ENST00000370328.3:c.579C=	ENSP00000359353.3:p.Ala193=
ENST00000441219.5:c.*609+1073C=	ENSP00000389384.1:n.*609+1073C=
ENST00000474932.1:n.305C=
ENST00000476016.1:n.171+1073C=
NM_004961.3:c.579C=	NP_004952.2:p.Ala193=
XM_006724813.2:c.579C=	XP_006724876.2:p.Ala193=
XM_011531135.1:c.240C=	XP_011529437.1:p.Ala80=
XM_011531136.1:c.240C=	XP_011529438.1:p.Ala80=
XM_011531137.1:c.579C=	XP_011529439.1:p.Ala193=
XM_011531138.1:c.579C=	XP_011529440.1:p.Ala193=
XM_011531139.1:c.579C=	XP_011529441.1:p.Ala193=
XM_017029387.2:c.144C=	XP_016884876.1:p.Ala48=
XM_017029388.1:c.67+1073C=	XP_016884877.1:n.67+1073C=
XM_017029389.2:c.240C=	XP_016884878.1:p.Ala80=
XM_024452360.1:c.240C=	XP_024308128.1:p.Ala80=
NM_004961.4:c.579C= MANE Select	NP_004952.2:p.Ala193=