Canonical Allele Identifier: CA1378698149
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578002T= , CM000665.2:g.81578002T= GRCh38
NC_000003.11:g.81627153T= , CM000665.1:g.81627153T= GRCh37
NC_000003.10:g.81709843T= NCBI36
NG_011810.1:g.188799A=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1541A= MANE Select ENSP00000410833.2:p.Asp514=
ENST00000429644.6:c.1541A= ENSP00000410833.2:p.Asp514=
ENST00000489715.1:c.1418A= ENSP00000419638.1:p.Asp473=
NM_000158.3:c.1541A= NP_000149.3:p.Asp514=
NM_000158.4:c.1541A= MANE Select NP_000149.4:p.Asp514=