Canonical Allele Identifier: CA1378730170

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648861C= , CM000665.2:g.81648861C=	GRCh38
NC_000003.11:g.81698012C= , CM000665.1:g.81698012C=	GRCh37
NC_000003.10:g.81780702C=	NCBI36
NG_011810.1:g.117940G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.686G= MANE Select	ENSP00000410833.2:p.Gly229=
ENST00000429644.6:c.686G=	ENSP00000410833.2:p.Gly229=
ENST00000489715.1:c.563G=	ENSP00000419638.1:p.Gly188=
ENST00000498468.1:n.214G=
NM_000158.3:c.686G=	NP_000149.3:p.Gly229=
NM_000158.4:c.686G= MANE Select	NP_000149.4:p.Gly229=