Canonical Allele Identifier: CA1378729190
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646599G= , CM000665.2:g.81646599G= GRCh38
NC_000003.11:g.81695750G= , CM000665.1:g.81695750G= GRCh37
NC_000003.10:g.81778440G= NCBI36
NG_011810.1:g.120202C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-117C= MANE Select ENSP00000410833.2:n.692-117C=
ENST00000429644.6:c.692-117C= ENSP00000410833.2:n.692-117C=
ENST00000489715.1:c.569-117C= ENSP00000419638.1:n.569-117C=
ENST00000498468.1:n.220-95C=
NM_000158.3:c.692-117C= NP_000149.3:n.692-117C=
NM_000158.4:c.692-117C= MANE Select NP_000149.4:n.692-117C=
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