Canonical Allele Identifier: CA353687843
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705554-T-G
COSMIC: COSM281323 COSM281324
MyVariant Identifiers: chr3:g.81754705T>G (hg19) chr3:g.81705554T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705554T>G , CM000665.2:g.81705554T>G GRCh38
NC_000003.11:g.81754705T>G , CM000665.1:g.81754705T>G GRCh37
NC_000003.10:g.81837395T>G NCBI36
NG_011810.1:g.61247A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.203A>C MANE Select ENSP00000410833.2:p.Lys68Thr
ENST00000429644.6:c.203A>C ENSP00000410833.2:p.Lys68Thr
ENST00000489715.1:c.80A>C ENSP00000419638.1:p.Lys27Thr
NM_000158.3:c.203A>C NP_000149.3:p.Lys68Thr
NM_000158.4:c.203A>C MANE Select NP_000149.4:p.Lys68Thr
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