Canonical Allele Identifier: CA434492362
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627134A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577983A>G , CM000665.2:g.81577983A>G GRCh38
NC_000003.11:g.81627134A>G , CM000665.1:g.81627134A>G GRCh37
NC_000003.10:g.81709824A>G NCBI36
NG_011810.1:g.188818T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1560T>C MANE Select ENSP00000410833.2:p.His520=
ENST00000429644.6:c.1560T>C ENSP00000410833.2:p.His520=
ENST00000489715.1:c.1437T>C ENSP00000419638.1:p.His479=
NM_000158.3:c.1560T>C NP_000149.3:p.His520=
NM_000158.4:c.1560T>C MANE Select NP_000149.4:p.His520=
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