Canonical Allele Identifier: CA1378743420

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670906T= , CM000665.2:g.81670906T=	GRCh38
NC_000003.11:g.81720057T= , CM000665.1:g.81720057T=	GRCh37
NC_000003.10:g.81802747T=	NCBI36
NG_011810.1:g.95895A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.361A= MANE Select	ENSP00000410833.2:p.Lys121=
ENST00000429644.6:c.361A=	ENSP00000410833.2:p.Lys121=
ENST00000477426.1:n.77A=
ENST00000489715.1:c.238A=	ENSP00000419638.1:p.Lys80=
NM_000158.3:c.361A=	NP_000149.3:p.Lys121=
NM_000158.4:c.361A= MANE Select	NP_000149.4:p.Lys121=