Canonical Allele Identifier: CA2666624252
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81649108-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649108A>G , CM000665.2:g.81649108A>G GRCh38
NC_000003.11:g.81698259A>G , CM000665.1:g.81698259A>G GRCh37
NC_000003.10:g.81780949A>G NCBI36
NG_011810.1:g.117693T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-117T>C MANE Select ENSP00000410833.2:n.556-117T>C
ENST00000429644.6:c.556-117T>C ENSP00000410833.2:n.556-117T>C
ENST00000486920.1:n.552-117T>C
ENST00000489715.1:c.433-117T>C ENSP00000419638.1:n.433-117T>C
ENST00000498468.1:n.84-117T>C
NM_000158.3:c.556-117T>C NP_000149.3:n.556-117T>C
NM_000158.4:c.556-117T>C MANE Select NP_000149.4:n.556-117T>C
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