{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367401371",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.607G>A (p.Val203Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44189431C>T?assembly=hg19",
        "id": "chr7:g.44189431C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44149832C>T?assembly=hg38",
        "id": "chr7:g.44149832C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2484522907",
        "rs": 2484522907
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44149832-C-T?dataset=gnomad_r4",
        "id": "7-44149832-C-T",
        "variant": "7:44149832 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 44149832,
          "referenceAllele": "C",
          "start": 44149831
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44149832C>T",
        "CM000669.2:g.44149832C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 44189431,
          "referenceAllele": "C",
          "start": 44189430
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189431C>T",
        "CM000669.1:g.44189431C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 44155956,
          "referenceAllele": "C",
          "start": 44155955
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44155956C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44592,
          "referenceAllele": "G",
          "start": 44591
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44592G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53339,
          "referenceAllele": "G",
          "start": 53338
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53339G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*605G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:p.Val203Met",
        "hgvsWellDefined": "ENSP00000482149.2:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.1093G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Val204Met",
        "hgvsWellDefined": "ENSP00000223366.2:p.Val204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Val203Met",
        "hgvsWellDefined": "ENSP00000384247.3:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.607G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.607G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Val203Met"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Val203Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Val203Met",
        "hgvsWellDefined": "ENSP00000500264.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Val203Met",
        "hgvsWellDefined": "ENSP00000499852.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Val204Met",
        "hgvsWellDefined": "ENSP00000223366.2:p.Val204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Val202Met",
        "hgvsWellDefined": "ENSP00000379142.3:p.Val202Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Val203Met",
        "hgvsWellDefined": "ENSP00000384247.3:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Val186Met",
        "hgvsWellDefined": "ENSP00000402840.1:p.Val186Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Val202Met",
        "hgvsWellDefined": "ENSP00000482149.1:p.Val202Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579974831",
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val203Met",
        "hgvsWellDefined": "NP_000153.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val204Met",
        "hgvsWellDefined": "NP_277042.1:p.Val204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val202Met",
        "hgvsWellDefined": "NP_277043.1:p.Val202Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579974831",
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val203Met",
        "hgvsWellDefined": "NP_000153.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Val203Met",
        "hgvsWellDefined": "NP_001341729.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val204Met",
        "hgvsWellDefined": "NP_277042.1:p.Val204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val202Met",
        "hgvsWellDefined": "NP_277043.1:p.Val202Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579974831",
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.607G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Val203Met",
        "hgvsWellDefined": "NP_000153.1:p.Val203Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.607G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.607G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Val203Met"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Val203Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Val204Met",
        "hgvsWellDefined": "NP_277042.1:p.Val204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Val202Met",
        "hgvsWellDefined": "NP_277043.1:p.Val202Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}