Canonical Allele Identifier: CA1378730222

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648980G= , CM000665.2:g.81648980G=	GRCh38
NC_000003.11:g.81698131G= , CM000665.1:g.81698131G=	GRCh37
NC_000003.10:g.81780821G=	NCBI36
NG_011810.1:g.117821C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.567C= MANE Select	ENSP00000410833.2:p.Ser189=
ENST00000429644.6:c.567C=	ENSP00000410833.2:p.Ser189=
ENST00000486920.1:n.563C=
ENST00000489715.1:c.444C=	ENSP00000419638.1:p.Ser148=
ENST00000498468.1:n.95C=
NM_000158.3:c.567C=	NP_000149.3:p.Ser189=
NM_000158.4:c.567C= MANE Select	NP_000149.4:p.Ser189=