Canonical Allele Identifier: CA1378730293
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649158C= , CM000665.2:g.81649158C= GRCh38
NC_000003.11:g.81698309C= , CM000665.1:g.81698309C= GRCh37
NC_000003.10:g.81780999C= NCBI36
NG_011810.1:g.117643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-167G= MANE Select ENSP00000410833.2:n.556-167G=
ENST00000429644.6:c.556-167G= ENSP00000410833.2:n.556-167G=
ENST00000486920.1:n.552-167G=
ENST00000489715.1:c.433-167G= ENSP00000419638.1:n.433-167G=
ENST00000498468.1:n.84-167G=
NM_000158.3:c.556-167G= NP_000149.3:n.556-167G=
NM_000158.4:c.556-167G= MANE Select NP_000149.4:n.556-167G=
Search 100 bp 5'
Search 100 bp 3'