Canonical Allele Identifier: CA1378679239

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535266A= , CM000665.2:g.81535266A=	GRCh38
NC_000003.11:g.81584417A= , CM000665.1:g.81584417A=	GRCh37
NC_000003.10:g.81667107A=	NCBI36
NG_011810.1:g.231535T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1863T= MANE Select	ENSP00000410833.2:p.Leu621=
ENST00000429644.6:c.1863T=	ENSP00000410833.2:p.Leu621=
ENST00000484687.1:n.264T=
ENST00000489715.1:c.1740T=	ENSP00000419638.1:p.Leu580=
NM_000158.3:c.1863T=	NP_000149.3:p.Leu621=
NM_000158.4:c.1863T= MANE Select	NP_000149.4:p.Leu621=