Canonical Allele Identifier: CA1378698128
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577962C= , CM000665.2:g.81577962C= GRCh38
NC_000003.11:g.81627113C= , CM000665.1:g.81627113C= GRCh37
NC_000003.10:g.81709803C= NCBI36
NG_011810.1:g.188839G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1581G= MANE Select ENSP00000410833.2:p.Thr527=
ENST00000429644.6:c.1581G= ENSP00000410833.2:p.Thr527=
ENST00000489715.1:c.1458G= ENSP00000419638.1:p.Thr486=
NM_000158.3:c.1581G= NP_000149.3:p.Thr527=
NM_000158.4:c.1581G= MANE Select NP_000149.4:p.Thr527=