{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367399688",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.1018A>T (p.Ser340Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44186063T>A?assembly=hg19",
        "id": "chr7:g.44186063T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44146464T>A?assembly=hg38",
        "id": "chr7:g.44146464T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922255",
        "rs": 193922255
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44146464-T-A?dataset=gnomad_r4",
        "id": "7-44146464-T-A",
        "variant": "7:44146464 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44146464,
          "referenceAllele": "T",
          "start": 44146463
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44146464T>A",
        "CM000669.2:g.44146464T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44186063,
          "referenceAllele": "T",
          "start": 44186062
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44186063T>A",
        "CM000669.1:g.44186063T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 44152588,
          "referenceAllele": "T",
          "start": 44152587
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44152588T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47960,
          "referenceAllele": "A",
          "start": 47959
        }
      ],
      "hgvs": [
        "NG_008847.1:g.47960A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56707,
          "referenceAllele": "A",
          "start": 56706
        }
      ],
      "hgvs": [
        "NG_008847.2:g.56707A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*1016A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*1016A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "referenceAllele": "A",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.*138A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:n.*138A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "A",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000683378.1:n.244A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.1021A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Ser341Cys",
        "hgvsWellDefined": "ENSP00000223366.2:p.Ser341Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Ser340Cys",
        "hgvsWellDefined": "ENSP00000384247.3:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1018A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1018A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Ser340Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Ser340Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "A",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.1081A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Ser361Cys",
        "hgvsWellDefined": "ENSP00000500264.1:p.Ser361Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Ser340Cys",
        "hgvsWellDefined": "ENSP00000499852.1:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.1021A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Ser341Cys",
        "hgvsWellDefined": "ENSP00000223366.2:p.Ser341Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Ser339Cys",
        "hgvsWellDefined": "ENSP00000379142.3:p.Ser339Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "A",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Ser340Cys",
        "hgvsWellDefined": "ENSP00000384247.3:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "A",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.967A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Ser323Cys",
        "hgvsWellDefined": "ENSP00000402840.1:p.Ser323Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "A",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000473353.1:n.316A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Ser339Cys",
        "hgvsWellDefined": "ENSP00000482149.1:p.Ser339Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579975703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "A",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ser340Cys",
        "hgvsWellDefined": "NP_000153.1:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.1021A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ser341Cys",
        "hgvsWellDefined": "NP_277042.1:p.Ser341Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "A",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ser339Cys",
        "hgvsWellDefined": "NP_277043.1:p.Ser339Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579975703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ser340Cys",
        "hgvsWellDefined": "NP_000153.1:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Ser340Cys",
        "hgvsWellDefined": "NP_001341729.1:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15,
          "endIntronDirection": "+",
          "endIntronOffset": 155,
          "referenceAllele": "A",
          "start": 15,
          "startIntronDirection": "+",
          "startIntronOffset": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354801.1:c.8+155A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341730.1:n.8+155A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.1021A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ser341Cys",
        "hgvsWellDefined": "NP_277042.1:p.Ser341Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ser339Cys",
        "hgvsWellDefined": "NP_277043.1:p.Ser339Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579975703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.1018A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ser340Cys",
        "hgvsWellDefined": "NP_000153.1:p.Ser340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.1018A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.1018A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Ser340Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Ser340Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.1021A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ser341Cys",
        "hgvsWellDefined": "NP_277042.1:p.Ser341Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.1015A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ser339Cys",
        "hgvsWellDefined": "NP_277043.1:p.Ser339Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}