Canonical Allele Identifier: CA1378729102

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646404A= , CM000665.2:g.81646404A=	GRCh38
NC_000003.11:g.81695555A= , CM000665.1:g.81695555A=	GRCh37
NC_000003.10:g.81778245A=	NCBI36
NG_011810.1:g.120397T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.770T= MANE Select	ENSP00000410833.2:p.Phe257=
ENST00000429644.6:c.770T=	ENSP00000410833.2:p.Phe257=
ENST00000489715.1:c.647T=	ENSP00000419638.1:p.Phe216=
ENST00000498468.1:n.320T=
NM_000158.3:c.770T=	NP_000149.3:p.Phe257=
NM_000158.4:c.770T= MANE Select	NP_000149.4:p.Phe257=