Canonical Allele Identifier: CA1378698115
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577924C= , CM000665.2:g.81577924C= GRCh38
NC_000003.11:g.81627075C= , CM000665.1:g.81627075C= GRCh37
NC_000003.10:g.81709765C= NCBI36
NG_011810.1:g.188877G=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618+1G= MANE Select ENSP00000410833.2:n.1618+1G=
ENST00000429644.6:c.1618+1G= ENSP00000410833.2:n.1618+1G=
ENST00000484687.1:n.19+1G=
ENST00000489715.1:c.1495+1G= ENSP00000419638.1:n.1495+1G=
NM_000158.3:c.1618+1G= NP_000149.3:n.1618+1G=
NM_000158.4:c.1618+1G= MANE Select NP_000149.4:n.1618+1G=
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