Canonical Allele Identifier: CA1378679313

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535460A= , CM000665.2:g.81535460A=	GRCh38
NC_000003.11:g.81584611A= , CM000665.1:g.81584611A=	GRCh37
NC_000003.10:g.81667301A=	NCBI36
NG_011810.1:g.231341T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-135T= MANE Select	ENSP00000410833.2:n.1804-135T=
ENST00000429644.6:c.1804-135T=	ENSP00000410833.2:n.1804-135T=
ENST00000484687.1:n.205-135T=
ENST00000489715.1:c.1681-135T=	ENSP00000419638.1:n.1681-135T=
NM_000158.3:c.1804-135T=	NP_000149.3:n.1804-135T=
NM_000158.4:c.1804-135T= MANE Select	NP_000149.4:n.1804-135T=