Canonical Allele Identifier: CA2666623909
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646502-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646502A>T , CM000665.2:g.81646502A>T GRCh38
NC_000003.11:g.81695653A>T , CM000665.1:g.81695653A>T GRCh37
NC_000003.10:g.81778343A>T NCBI36
NG_011810.1:g.120299T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-20T>A MANE Select ENSP00000410833.2:n.692-20T>A
ENST00000429644.6:c.692-20T>A ENSP00000410833.2:n.692-20T>A
ENST00000489715.1:c.569-20T>A ENSP00000419638.1:n.569-20T>A
ENST00000498468.1:n.222T>A
NM_000158.3:c.692-20T>A NP_000149.3:n.692-20T>A
NM_000158.4:c.692-20T>A MANE Select NP_000149.4:n.692-20T>A
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