Canonical Allele Identifier: CA353684554
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627077C>A (hg19) chr3:g.81577926C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577926C>A , CM000665.2:g.81577926C>A GRCh38
NC_000003.11:g.81627077C>A , CM000665.1:g.81627077C>A GRCh37
NC_000003.10:g.81709767C>A NCBI36
NG_011810.1:g.188875G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1617G>T MANE Select ENSP00000410833.2:p.Met539Ile
ENST00000429644.6:c.1617G>T ENSP00000410833.2:p.Met539Ile
ENST00000484687.1:n.18G>T
ENST00000489715.1:c.1494G>T ENSP00000419638.1:p.Met498Ile
NM_000158.3:c.1617G>T NP_000149.3:p.Met539Ile
NM_000158.4:c.1617G>T MANE Select NP_000149.4:p.Met539Ile
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