Canonical Allele Identifier: CA1378730249

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649036G= , CM000665.2:g.81649036G=	GRCh38
NC_000003.11:g.81698187G= , CM000665.1:g.81698187G=	GRCh37
NC_000003.10:g.81780877G=	NCBI36
NG_011810.1:g.117765C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-45C= MANE Select	ENSP00000410833.2:n.556-45C=
ENST00000429644.6:c.556-45C=	ENSP00000410833.2:n.556-45C=
ENST00000486920.1:n.552-45C=
ENST00000489715.1:c.433-45C=	ENSP00000419638.1:n.433-45C=
ENST00000498468.1:n.84-45C=
NM_000158.3:c.556-45C=	NP_000149.3:n.556-45C=
NM_000158.4:c.556-45C= MANE Select	NP_000149.4:n.556-45C=