Canonical Allele Identifier: CA78292196
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs371772328
gnomAD v3: 3-81646596-T-G
gnomAD v4: 3-81646596-T-G
MyVariant Identifiers: chr3:g.81695747T>G (hg19) chr3:g.81646596T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646596T>G , CM000665.2:g.81646596T>G GRCh38
NC_000003.11:g.81695747T>G , CM000665.1:g.81695747T>G GRCh37
NC_000003.10:g.81778437T>G NCBI36
NG_011810.1:g.120205A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-114A>C MANE Select ENSP00000410833.2:n.692-114A>C
ENST00000429644.6:c.692-114A>C ENSP00000410833.2:n.692-114A>C
ENST00000489715.1:c.569-114A>C ENSP00000419638.1:n.569-114A>C
ENST00000498468.1:n.220-92A>C
NM_000158.3:c.692-114A>C NP_000149.3:n.692-114A>C
NM_000158.4:c.692-114A>C MANE Select NP_000149.4:n.692-114A>C
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