Canonical Allele Identifier: CA1378743406

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670869G= , CM000665.2:g.81670869G=	GRCh38
NC_000003.11:g.81720020G= , CM000665.1:g.81720020G=	GRCh37
NC_000003.10:g.81802710G=	NCBI36
NG_011810.1:g.95932C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.398C= MANE Select	ENSP00000410833.2:p.Ser133=
ENST00000429644.6:c.398C=	ENSP00000410833.2:p.Ser133=
ENST00000477426.1:n.114C=
ENST00000489715.1:c.275C=	ENSP00000419638.1:p.Ser92=
NM_000158.3:c.398C=	NP_000149.3:p.Ser133=
NM_000158.4:c.398C= MANE Select	NP_000149.4:p.Ser133=