Canonical Allele Identifier: CA353684569
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627082A>T (hg19) chr3:g.81577931A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577931A>T , CM000665.2:g.81577931A>T GRCh38
NC_000003.11:g.81627082A>T , CM000665.1:g.81627082A>T GRCh37
NC_000003.10:g.81709772A>T NCBI36
NG_011810.1:g.188870T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1612T>A MANE Select ENSP00000410833.2:p.Phe538Ile
ENST00000429644.6:c.1612T>A ENSP00000410833.2:p.Phe538Ile
ENST00000484687.1:n.13T>A
ENST00000489715.1:c.1489T>A ENSP00000419638.1:p.Phe497Ile
NM_000158.3:c.1612T>A NP_000149.3:p.Phe538Ile
NM_000158.4:c.1612T>A MANE Select NP_000149.4:p.Phe538Ile
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