Canonical Allele Identifier: CA353688221
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648859-G-T
MyVariant Identifiers: chr3:g.81698010G>T (hg19) chr3:g.81648859G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648859G>T , CM000665.2:g.81648859G>T GRCh38
NC_000003.11:g.81698010G>T , CM000665.1:g.81698010G>T GRCh37
NC_000003.10:g.81780700G>T NCBI36
NG_011810.1:g.117942C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.688C>A MANE Select ENSP00000410833.2:p.Leu230Ile
ENST00000429644.6:c.688C>A ENSP00000410833.2:p.Leu230Ile
ENST00000489715.1:c.565C>A ENSP00000419638.1:p.Leu189Ile
ENST00000498468.1:n.216C>A
NM_000158.3:c.688C>A NP_000149.3:p.Leu230Ile
NM_000158.4:c.688C>A MANE Select NP_000149.4:p.Leu230Ile
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