Canonical Allele Identifier: CA1378729160
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1704766679
gnomAD v4: 3-81646549-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646549A>G , CM000665.2:g.81646549A>G GRCh38
NC_000003.11:g.81695700A>G , CM000665.1:g.81695700A>G GRCh37
NC_000003.10:g.81778390A>G NCBI36
NG_011810.1:g.120252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-67T>C MANE Select ENSP00000410833.2:n.692-67T>C
ENST00000429644.6:c.692-67T>C ENSP00000410833.2:n.692-67T>C
ENST00000489715.1:c.569-67T>C ENSP00000419638.1:n.569-67T>C
ENST00000498468.1:n.220-45T>C
NM_000158.3:c.692-67T>C NP_000149.3:n.692-67T>C
NM_000158.4:c.692-67T>C MANE Select NP_000149.4:n.692-67T>C
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