Canonical Allele Identifier: CA1378679221

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535228G= , CM000665.2:g.81535228G=	GRCh38
NC_000003.11:g.81584379G= , CM000665.1:g.81584379G=	GRCh37
NC_000003.10:g.81667069G=	NCBI36
NG_011810.1:g.231573C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1901C= MANE Select	ENSP00000410833.2:p.Thr634=
ENST00000429644.6:c.1901C=	ENSP00000410833.2:p.Thr634=
ENST00000484687.1:n.302C=
ENST00000489715.1:c.1778C=	ENSP00000419638.1:p.Thr593=
NM_000158.3:c.1901C=	NP_000149.3:p.Thr634=
NM_000158.4:c.1901C= MANE Select	NP_000149.4:p.Thr634=