Canonical Allele Identifier: CA1378743437

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670943A= , CM000665.2:g.81670943A=	GRCh38
NC_000003.11:g.81720094A= , CM000665.1:g.81720094A=	GRCh37
NC_000003.10:g.81802784A=	NCBI36
NG_011810.1:g.95858T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.324T= MANE Select	ENSP00000410833.2:p.Asn108=
ENST00000429644.6:c.324T=	ENSP00000410833.2:p.Asn108=
ENST00000477426.1:n.40T=
ENST00000489715.1:c.201T=	ENSP00000419638.1:p.Asn67=
NM_000158.3:c.324T=	NP_000149.3:p.Asn108=
NM_000158.4:c.324T= MANE Select	NP_000149.4:p.Asn108=