Canonical Allele Identifier: CA2666623732
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81643011-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81643011A>G , CM000665.2:g.81643011A>G GRCh38
NC_000003.11:g.81692162A>G , CM000665.1:g.81692162A>G GRCh37
NC_000003.10:g.81774852A>G NCBI36
NG_011810.1:g.123790T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.783-21T>C MANE Select ENSP00000410833.2:n.783-21T>C
ENST00000429644.6:c.783-21T>C ENSP00000410833.2:n.783-21T>C
ENST00000489715.1:c.660-21T>C ENSP00000419638.1:n.660-21T>C
ENST00000498468.1:n.333-21T>C
NM_000158.3:c.783-21T>C NP_000149.3:n.783-21T>C
NM_000158.4:c.783-21T>C MANE Select NP_000149.4:n.783-21T>C
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