{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA838780491",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.679+8C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44189351G>A?assembly=hg19",
        "id": "chr7:g.44189351G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44149752G>A?assembly=hg38",
        "id": "chr7:g.44149752G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1281256686",
        "rs": 1281256686
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44149752-G-A?dataset=gnomad_r3",
        "id": "7-44149752-G-A",
        "variant": "7:44149752 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44149752-G-A?dataset=gnomad_r4",
        "id": "7-44149752-G-A",
        "variant": "7:44149752 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44149752,
          "referenceAllele": "G",
          "start": 44149751
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44149752G>A",
        "CM000669.2:g.44149752G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44189351,
          "referenceAllele": "G",
          "start": 44189350
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189351G>A",
        "CM000669.1:g.44189351G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44155876,
          "referenceAllele": "G",
          "start": 44155875
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44155876G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44672,
          "referenceAllele": "C",
          "start": 44671
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53419,
          "referenceAllele": "C",
          "start": 53418
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53419C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*677+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*677+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.1173C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.682+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:n.682+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.679+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.679+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:n.679+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:n.679+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.682+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:n.682+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.676+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:n.676+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1149,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 662,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.628+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:n.628+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 676,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.676+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:n.676+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1149,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 850,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.682+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:n.682+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 974,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.676+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:n.676+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "hgvs": [
        "XR_927223.1:n.267G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.682+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:n.682+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 968,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.676+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:n.676+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "hgvs": [
        "XR_927223.2:n.267G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.679+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:n.679+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.679+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.679+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:n.679+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:n.679+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.682+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:n.682+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 968,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.676+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:n.676+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}