Canonical Allele Identifier: PA2830124102
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578351
ClinVar RCV Id: RCV003326077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_277043.1:p.Gln464_Ter465insArgGluGlnTrpProGlnAlaGlnGlyGlyCysHisSerProThrAlaProArgLeuHisGlyGluValLeuProThrArgAlaArgSerLeuAlaGlyGlnGluAlaTrpProCysGlnAspProGlyArgLeuProTyrArgTrpGlyThrGluArgAlaSerSerLeuSerPheSerValGlyGlnProGlnGlyProAsnGlyGlyAlaAlaGlyAlaGlyThrGluThrLeuGluAlaProHisLeuSerArgTrpAsnGlnPheProArgArgGluLeuLeuThrGlnAspPheAspAlaPheProHisCysGlnSerCysTrpProArgLeuGlyProGlySerGlyLysGlyCysProLeuAspProAlaValAlaSerLeuProTrpGluLeuIleLeuCysGlyGluAlaAlaProThrAla
CA367396721
NM_033508.3:c.1393T>C
CA367396723
NM_033508.3:c.1393T>A