Canonical Allele Identifier: CA1378729195

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646616C= , CM000665.2:g.81646616C=	GRCh38
NC_000003.11:g.81695767C= , CM000665.1:g.81695767C=	GRCh37
NC_000003.10:g.81778457C=	NCBI36
NG_011810.1:g.120185G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-134G= MANE Select	ENSP00000410833.2:n.692-134G=
ENST00000429644.6:c.692-134G=	ENSP00000410833.2:n.692-134G=
ENST00000489715.1:c.569-134G=	ENSP00000419638.1:n.569-134G=
ENST00000498468.1:n.220-112G=
NM_000158.3:c.692-134G=	NP_000149.3:n.692-134G=
NM_000158.4:c.692-134G= MANE Select	NP_000149.4:n.692-134G=