Canonical Allele Identifier: CA1378698130
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577964T= , CM000665.2:g.81577964T= GRCh38
NC_000003.11:g.81627115T= , CM000665.1:g.81627115T= GRCh37
NC_000003.10:g.81709805T= NCBI36
NG_011810.1:g.188837A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1579A= MANE Select ENSP00000410833.2:p.Thr527=
ENST00000429644.6:c.1579A= ENSP00000410833.2:p.Thr527=
ENST00000489715.1:c.1456A= ENSP00000419638.1:p.Thr486=
NM_000158.3:c.1579A= NP_000149.3:p.Thr527=
NM_000158.4:c.1579A= MANE Select NP_000149.4:p.Thr527=
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