Canonical Allele Identifier: CA1378743404
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670862G= , CM000665.2:g.81670862G= GRCh38
NC_000003.11:g.81720013G= , CM000665.1:g.81720013G= GRCh37
NC_000003.10:g.81802703G= NCBI36
NG_011810.1:g.95939C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.405C= MANE Select ENSP00000410833.2:p.Leu135=
ENST00000429644.6:c.405C= ENSP00000410833.2:p.Leu135=
ENST00000477426.1:n.121C=
ENST00000489715.1:c.282C= ENSP00000419638.1:p.Leu94=
NM_000158.3:c.405C= NP_000149.3:p.Leu135=
NM_000158.4:c.405C= MANE Select NP_000149.4:p.Leu135=
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