Canonical Allele Identifier: CA353687813
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81754691A>C (hg19) chr3:g.81705540A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705540A>C , CM000665.2:g.81705540A>C GRCh38
NC_000003.11:g.81754691A>C , CM000665.1:g.81754691A>C GRCh37
NC_000003.10:g.81837381A>C NCBI36
NG_011810.1:g.61261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.217T>G MANE Select ENSP00000410833.2:p.Tyr73Asp
ENST00000429644.6:c.217T>G ENSP00000410833.2:p.Tyr73Asp
ENST00000489715.1:c.94T>G ENSP00000419638.1:p.Tyr32Asp
NM_000158.3:c.217T>G NP_000149.3:p.Tyr73Asp
NM_000158.4:c.217T>G MANE Select NP_000149.4:p.Tyr73Asp
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