Canonical Allele Identifier: CA1378760097
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705498A= , CM000665.2:g.81705498A= GRCh38
NC_000003.11:g.81754649A= , CM000665.1:g.81754649A= GRCh37
NC_000003.10:g.81837339A= NCBI36
NG_011810.1:g.61303T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.259T= MANE Select ENSP00000410833.2:p.Tyr87=
ENST00000429644.6:c.259T= ENSP00000410833.2:p.Tyr87=
ENST00000489715.1:c.136T= ENSP00000419638.1:p.Tyr46=
NM_000158.3:c.259T= NP_000149.3:p.Tyr87=
NM_000158.4:c.259T= MANE Select NP_000149.4:p.Tyr87=
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