Canonical Allele Identifier: CA1378730223
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648981G= , CM000665.2:g.81648981G= GRCh38
NC_000003.11:g.81698132G= , CM000665.1:g.81698132G= GRCh37
NC_000003.10:g.81780822G= NCBI36
NG_011810.1:g.117820C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.566C= MANE Select ENSP00000410833.2:p.Ser189=
ENST00000429644.6:c.566C= ENSP00000410833.2:p.Ser189=
ENST00000486920.1:n.562C=
ENST00000489715.1:c.443C= ENSP00000419638.1:p.Ser148=
ENST00000498468.1:n.94C=
NM_000158.3:c.566C= NP_000149.3:p.Ser189=
NM_000158.4:c.566C= MANE Select NP_000149.4:p.Ser189=