{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1703635977",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.542T= (p.Val181=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922306",
        "rs": 193922306
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44150006,
          "referenceAllele": "A",
          "start": 44150005
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44150006A=",
        "CM000669.2:g.44150006A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44189605,
          "referenceAllele": "A",
          "start": 44189604
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189605A=",
        "CM000669.1:g.44189605A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44156130,
          "referenceAllele": "A",
          "start": 44156129
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44156130A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44418,
          "referenceAllele": "T",
          "start": 44417
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44418T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53165,
          "referenceAllele": "T",
          "start": 53164
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53165T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*540T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*540T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.1028T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Val182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.542T="
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Val181="
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Val181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Val182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.539T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.491T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Val164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "T",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.539T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.539T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.539T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443356",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.542T="
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Val181="
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Val181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.545T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.539T="
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}