{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1703612694",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.1289T= (p.Leu430=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922277",
        "rs": 193922277
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44145245,
          "referenceAllele": "A",
          "start": 44145244
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44145245A=",
        "CM000669.2:g.44145245A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44184844,
          "referenceAllele": "A",
          "start": 44184843
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44184844A=",
        "CM000669.1:g.44184844A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44151369,
          "referenceAllele": "A",
          "start": 44151368
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44151369A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49179,
          "referenceAllele": "T",
          "start": 49178
        }
      ],
      "hgvs": [
        "NG_008847.1:g.49179T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57926,
          "referenceAllele": "T",
          "start": 57925
        }
      ],
      "hgvs": [
        "NG_008847.2:g.57926T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "T",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*1287T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*1287T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "T",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.*409T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:n.*409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "T",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000683378.1:n.515T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000336642.9:c.323T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338009.5:p.Leu108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.1292T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "T",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1289T="
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1289T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Leu430="
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Leu430="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "T",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.1352T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Leu451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "T",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000672743.1:n.301T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "T",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000336642.8:c.341T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338009.4:p.Leu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.1292T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "T",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.1286T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Leu429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "T",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.1238T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Leu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "T",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000459642.1:n.669T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "T",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.1286T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Leu429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825078418",
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122438",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "T",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.1292T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830124021",
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "T",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.1286T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825078418",
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "T",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937036",
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "T",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937213",
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "T",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354801.1:c.278T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341730.1:p.Leu93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937348",
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354802.1:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341731.1:p.Leu50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937398",
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354803.1:c.323T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341732.1:p.Leu108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122438",
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.1292T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830124021",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "T",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.1286T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "XM_024446707.1:c.149T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302475.1:p.Leu50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825078418",
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "T",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.1289T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1289T="
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1289T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Leu430="
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Leu430="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830122438",
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.1292T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830124021",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "T",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.1286T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937398",
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354803.2:c.323T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341732.1:p.Leu108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720578"
    }
  ],
  "type": "nucleotide"
}