Canonical Allele Identifier: CA1378698135
Community Standard Title: NM_000158.4(GBE1):c.1571G= (p.Arg524=)
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577972C= , CM000665.2:g.81577972C= GRCh38
NC_000003.11:g.81627123C= , CM000665.1:g.81627123C= GRCh37
NC_000003.10:g.81709813C= NCBI36
NG_011810.1:g.188829G=

Transcript Alleles

HGVS Amino-acid Change
NM_000158.4:c.1571G= MANE Select NP_000149.4:p.Arg524=
ENST00000429644.7:c.1571G= MANE Select ENSP00000410833.2:p.Arg524=
NM_000158.3:c.1571G= NP_000149.3:p.Arg524=
ENST00000429644.6:c.1571G= ENSP00000410833.2:p.Arg524=
ENST00000489715.1:c.1448G= ENSP00000419638.1:p.Arg483=