Canonical Allele Identifier: CA1378743424
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670917A= , CM000665.2:g.81670917A= GRCh38
NC_000003.11:g.81720068A= , CM000665.1:g.81720068A= GRCh37
NC_000003.10:g.81802758A= NCBI36
NG_011810.1:g.95884T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.350T= MANE Select ENSP00000410833.2:p.Leu117=
ENST00000429644.6:c.350T= ENSP00000410833.2:p.Leu117=
ENST00000477426.1:n.66T=
ENST00000489715.1:c.227T= ENSP00000419638.1:p.Leu76=
NM_000158.3:c.350T= NP_000149.3:p.Leu117=
NM_000158.4:c.350T= MANE Select NP_000149.4:p.Leu117=
Search 100 bp 5'
Search 100 bp 3'