Canonical Allele Identifier: CA1378730168

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648854A= , CM000665.2:g.81648854A=	GRCh38
NC_000003.11:g.81698005A= , CM000665.1:g.81698005A=	GRCh37
NC_000003.10:g.81780695A=	NCBI36
NG_011810.1:g.117947T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691+2T= MANE Select	ENSP00000410833.2:n.691+2T=
ENST00000429644.6:c.691+2T=	ENSP00000410833.2:n.691+2T=
ENST00000489715.1:c.568+2T=	ENSP00000419638.1:n.568+2T=
ENST00000498468.1:n.219+2T=
NM_000158.3:c.691+2T=	NP_000149.3:n.691+2T=
NM_000158.4:c.691+2T= MANE Select	NP_000149.4:n.691+2T=