Canonical Allele Identifier: PA2830122569
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2691823
ClinVar RCV Id: RCV003494020

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_277042.1:p.Gln466_Ter467insCysGluGlnTrpProGlnAlaGlnGlyGlyCysHisSerProThrAlaProArgLeuHisGlyGluValLeuProThrArgAlaArgSerLeuAlaGlyGlnGluAlaTrpProCysGlnAspProGlyArgLeuProTyrArgTrpGlyThrGluArgAlaSerSerLeuSerPheSerValGlyGlnProGlnGlyProAsnGlyGlyAlaAlaGlyAlaGlyThrGluThrLeuGluAlaProHisLeuSerArgTrpAsnGlnPheProArgArgGluLeuLeuThrGlnAspPheAspAlaPheProHisCysGlnSerCysTrpProArgLeuGlyProGlySerGlyLysGlyCysProLeuAspProAlaValAlaSerLeuProTrpGluLeuIleLeuCysGlyGluAlaAlaProThrAla
CA367396714
NM_033507.3:c.1401A>T
CA367396717
NM_033507.3:c.1401A>C