Canonical Allele Identifier: PA2827937256
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578351
ClinVar RCV Id: RCV003326077
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341730.1:p.Gln128_Ter129insArgGluGlnTrpProGlnAlaGlnGlyGlyCysHisSerProThrAlaProArgLeuHisGlyGluValLeuProThrArgAlaArgSerLeuAlaGlyGlnGluAlaTrpProCysGlnAspProGlyArgLeuProTyrArgTrpGlyThrGluArgAlaSerSerLeuSerPheSerValGlyGlnProGlnGlyProAsnGlyGlyAlaAlaGlyAlaGlyThrGluThrLeuGluAlaProHisLeuSerArgTrpAsnGlnPheProArgArgGluLeuLeuThrGlnAspPheAspAlaPheProHisCysGlnSerCysTrpProArgLeuGlyProGlySerGlyLysGlyCysProLeuAspProAlaValAlaSerLeuProTrpGluLeuIleLeuCysGlyGluAlaAlaProThrAla
CA367396721
NM_001354801.1:c.385T>C
CA367396723
NM_001354801.1:c.385T>A