Canonical Allele Identifier: CA1378698119

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577937G= , CM000665.2:g.81577937G=	GRCh38
NC_000003.11:g.81627088G= , CM000665.1:g.81627088G=	GRCh37
NC_000003.10:g.81709778G=	NCBI36
NG_011810.1:g.188864C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1606C= MANE Select	ENSP00000410833.2:p.Leu536=
ENST00000429644.6:c.1606C=	ENSP00000410833.2:p.Leu536=
ENST00000484687.1:n.7C=
ENST00000489715.1:c.1483C=	ENSP00000419638.1:p.Leu495=
NM_000158.3:c.1606C=	NP_000149.3:p.Leu536=
NM_000158.4:c.1606C= MANE Select	NP_000149.4:p.Leu536=