Canonical Allele Identifier: CA2666604679
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81577895-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577895A>G , CM000665.2:g.81577895A>G GRCh38
NC_000003.11:g.81627046A>G , CM000665.1:g.81627046A>G GRCh37
NC_000003.10:g.81709736A>G NCBI36
NG_011810.1:g.188906T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618+30T>C MANE Select ENSP00000410833.2:n.1618+30T>C
ENST00000429644.6:c.1618+30T>C ENSP00000410833.2:n.1618+30T>C
ENST00000484687.1:n.19+30T>C
ENST00000489715.1:c.1495+30T>C ENSP00000419638.1:n.1495+30T>C
NM_000158.3:c.1618+30T>C NP_000149.3:n.1618+30T>C
NM_000158.4:c.1618+30T>C MANE Select NP_000149.4:n.1618+30T>C
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