Canonical Allele Identifier: CA1378729100

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646401G= , CM000665.2:g.81646401G=	GRCh38
NC_000003.11:g.81695552G= , CM000665.1:g.81695552G=	GRCh37
NC_000003.10:g.81778242G=	NCBI36
NG_011810.1:g.120400C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.773C= MANE Select	ENSP00000410833.2:p.Ala258=
ENST00000429644.6:c.773C=	ENSP00000410833.2:p.Ala258=
ENST00000489715.1:c.650C=	ENSP00000419638.1:p.Ala217=
ENST00000498468.1:n.323C=
NM_000158.3:c.773C=	NP_000149.3:p.Ala258=
NM_000158.4:c.773C= MANE Select	NP_000149.4:p.Ala258=