Canonical Allele Identifier: CA1378743422

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670913A= , CM000665.2:g.81670913A=	GRCh38
NC_000003.11:g.81720064A= , CM000665.1:g.81720064A=	GRCh37
NC_000003.10:g.81802754A=	NCBI36
NG_011810.1:g.95888T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.354T= MANE Select	ENSP00000410833.2:p.Asp118=
ENST00000429644.6:c.354T=	ENSP00000410833.2:p.Asp118=
ENST00000477426.1:n.70T=
ENST00000489715.1:c.231T=	ENSP00000419638.1:p.Asp77=
NM_000158.3:c.354T=	NP_000149.3:p.Asp118=
NM_000158.4:c.354T= MANE Select	NP_000149.4:p.Asp118=