Canonical Allele Identifier: CA2666607776
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705428-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705428G>T , CM000665.2:g.81705428G>T GRCh38
NC_000003.11:g.81754579G>T , CM000665.1:g.81754579G>T GRCh37
NC_000003.10:g.81837269G>T NCBI36
NG_011810.1:g.61373C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.313+16C>A MANE Select ENSP00000410833.2:n.313+16C>A
ENST00000429644.6:c.313+16C>A ENSP00000410833.2:n.313+16C>A
ENST00000489715.1:c.190+16C>A ENSP00000419638.1:n.190+16C>A
NM_000158.3:c.313+16C>A NP_000149.3:n.313+16C>A
NM_000158.4:c.313+16C>A MANE Select NP_000149.4:n.313+16C>A
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