Canonical Allele Identifier: CA353689031
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720089A>C (hg19) chr3:g.81670938A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670938A>C , CM000665.2:g.81670938A>C GRCh38
NC_000003.11:g.81720089A>C , CM000665.1:g.81720089A>C GRCh37
NC_000003.10:g.81802779A>C NCBI36
NG_011810.1:g.95863T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.329T>G MANE Select ENSP00000410833.2:p.Phe110Cys
ENST00000429644.6:c.329T>G ENSP00000410833.2:p.Phe110Cys
ENST00000477426.1:n.45T>G
ENST00000489715.1:c.206T>G ENSP00000419638.1:p.Phe69Cys
NM_000158.3:c.329T>G NP_000149.3:p.Phe110Cys
NM_000158.4:c.329T>G MANE Select NP_000149.4:p.Phe110Cys
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