Canonical Allele Identifier: CA353687697
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705489-C-T
MyVariant Identifiers: chr3:g.81754640C>T (hg19) chr3:g.81705489C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705489C>T , CM000665.2:g.81705489C>T GRCh38
NC_000003.11:g.81754640C>T , CM000665.1:g.81754640C>T GRCh37
NC_000003.10:g.81837330C>T NCBI36
NG_011810.1:g.61312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.268G>A MANE Select ENSP00000410833.2:p.Glu90Lys
ENST00000429644.6:c.268G>A ENSP00000410833.2:p.Glu90Lys
ENST00000489715.1:c.145G>A ENSP00000419638.1:p.Glu49Lys
NM_000158.3:c.268G>A NP_000149.3:p.Glu90Lys
NM_000158.4:c.268G>A MANE Select NP_000149.4:p.Glu90Lys
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