Canonical Allele Identifier: CA1378743428

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670925G= , CM000665.2:g.81670925G=	GRCh38
NC_000003.11:g.81720076G= , CM000665.1:g.81720076G=	GRCh37
NC_000003.10:g.81802766G=	NCBI36
NG_011810.1:g.95876C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.342C= MANE Select	ENSP00000410833.2:p.Tyr114=
ENST00000429644.6:c.342C=	ENSP00000410833.2:p.Tyr114=
ENST00000477426.1:n.58C=
ENST00000489715.1:c.219C=	ENSP00000419638.1:p.Tyr73=
NM_000158.3:c.342C=	NP_000149.3:p.Tyr114=
NM_000158.4:c.342C= MANE Select	NP_000149.4:p.Tyr114=