Canonical Allele Identifier: CA1378743405

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670865T= , CM000665.2:g.81670865T=	GRCh38
NC_000003.11:g.81720016T= , CM000665.1:g.81720016T=	GRCh37
NC_000003.10:g.81802706T=	NCBI36
NG_011810.1:g.95936A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.402A= MANE Select	ENSP00000410833.2:p.Val134=
ENST00000429644.6:c.402A=	ENSP00000410833.2:p.Val134=
ENST00000477426.1:n.118A=
ENST00000489715.1:c.279A=	ENSP00000419638.1:p.Val93=
NM_000158.3:c.402A=	NP_000149.3:p.Val134=
NM_000158.4:c.402A= MANE Select	NP_000149.4:p.Val134=