Canonical Allele Identifier: CA1378760194

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705554T= , CM000665.2:g.81705554T=	GRCh38
NC_000003.11:g.81754705T= , CM000665.1:g.81754705T=	GRCh37
NC_000003.10:g.81837395T=	NCBI36
NG_011810.1:g.61247A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.203A= MANE Select	ENSP00000410833.2:p.Lys68=
ENST00000429644.6:c.203A=	ENSP00000410833.2:p.Lys68=
ENST00000489715.1:c.80A=	ENSP00000419638.1:p.Lys27=
NM_000158.3:c.203A=	NP_000149.3:p.Lys68=
NM_000158.4:c.203A= MANE Select	NP_000149.4:p.Lys68=