Canonical Allele Identifier: CA353684605
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627097C>T (hg19) chr3:g.81577946C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577946C>T , CM000665.2:g.81577946C>T GRCh38
NC_000003.11:g.81627097C>T , CM000665.1:g.81627097C>T GRCh37
NC_000003.10:g.81709787C>T NCBI36
NG_011810.1:g.188855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1597G>A MANE Select ENSP00000410833.2:p.Glu533Lys
ENST00000429644.6:c.1597G>A ENSP00000410833.2:p.Glu533Lys
ENST00000489715.1:c.1474G>A ENSP00000419638.1:p.Glu492Lys
NM_000158.3:c.1597G>A NP_000149.3:p.Glu533Lys
NM_000158.4:c.1597G>A MANE Select NP_000149.4:p.Glu533Lys
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