Canonical Allele Identifier: CA1378743409

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670880C= , CM000665.2:g.81670880C=	GRCh38
NC_000003.11:g.81720031C= , CM000665.1:g.81720031C=	GRCh37
NC_000003.10:g.81802721C=	NCBI36
NG_011810.1:g.95921G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.387G= MANE Select	ENSP00000410833.2:p.Lys129=
ENST00000429644.6:c.387G=	ENSP00000410833.2:p.Lys129=
ENST00000477426.1:n.103G=
ENST00000489715.1:c.264G=	ENSP00000419638.1:p.Lys88=
NM_000158.3:c.387G=	NP_000149.3:p.Lys129=
NM_000158.4:c.387G= MANE Select	NP_000149.4:p.Lys129=