Canonical Allele Identifier: CA1378729076

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646336T= , CM000665.2:g.81646336T=	GRCh38
NC_000003.11:g.81695487T= , CM000665.1:g.81695487T=	GRCh37
NC_000003.10:g.81778177T=	NCBI36
NG_011810.1:g.120465A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.782+56A= MANE Select	ENSP00000410833.2:n.782+56A=
ENST00000429644.6:c.782+56A=	ENSP00000410833.2:n.782+56A=
ENST00000489715.1:c.659+56A=	ENSP00000419638.1:n.659+56A=
ENST00000498468.1:n.332+56A=
NM_000158.3:c.782+56A=	NP_000149.3:n.782+56A=
NM_000158.4:c.782+56A= MANE Select	NP_000149.4:n.782+56A=