{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257435",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31183[alleleid]",
        "alleleId": 31183,
        "preferredName": "NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16144",
        "RCV": [
          "RCV000017526"
        ],
        "variationId": 16144
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44189397T>C?assembly=hg19",
        "id": "chr7:g.44189397T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44149798T>C?assembly=hg38",
        "id": "chr7:g.44149798T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894015",
        "rs": 104894015
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44149798,
          "referenceAllele": "T",
          "start": 44149797
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44149798T>C",
        "CM000669.2:g.44149798T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44189397,
          "referenceAllele": "T",
          "start": 44189396
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189397T>C",
        "CM000669.1:g.44189397T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44155922,
          "referenceAllele": "T",
          "start": 44155921
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44155922T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44626,
          "referenceAllele": "A",
          "start": 44625
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44626A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53373,
          "referenceAllele": "A",
          "start": 53372
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53373A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*639A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*639A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:p.Tyr214Cys",
        "hgvsWellDefined": "ENSP00000482149.2:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.1127A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Tyr215Cys",
        "hgvsWellDefined": "ENSP00000223366.2:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Tyr214Cys",
        "hgvsWellDefined": "ENSP00000384247.3:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.641A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.641A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Tyr214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Tyr214Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Tyr214Cys",
        "hgvsWellDefined": "ENSP00000500264.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Tyr214Cys",
        "hgvsWellDefined": "ENSP00000499852.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Tyr215Cys",
        "hgvsWellDefined": "ENSP00000223366.2:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.638A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Tyr213Cys",
        "hgvsWellDefined": "ENSP00000379142.3:p.Tyr213Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Tyr214Cys",
        "hgvsWellDefined": "ENSP00000384247.3:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.590A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Tyr197Cys",
        "hgvsWellDefined": "ENSP00000402840.1:p.Tyr197Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.638A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Tyr213Cys",
        "hgvsWellDefined": "ENSP00000482149.1:p.Tyr213Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257436",
      "coordinates": [
        {
          "allele": "G",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Tyr214Cys",
        "hgvsWellDefined": "NP_000153.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460216",
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Tyr215Cys",
        "hgvsWellDefined": "NP_277042.1:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123412",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.638A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Tyr213Cys",
        "hgvsWellDefined": "NP_277043.1:p.Tyr213Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257436",
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Tyr214Cys",
        "hgvsWellDefined": "NP_000153.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827936681",
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Tyr214Cys",
        "hgvsWellDefined": "NP_001341729.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460216",
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Tyr215Cys",
        "hgvsWellDefined": "NP_277042.1:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123412",
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.638A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Tyr213Cys",
        "hgvsWellDefined": "NP_277043.1:p.Tyr213Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257436",
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.641A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Tyr214Cys",
        "hgvsWellDefined": "NP_000153.1:p.Tyr214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.641A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.641A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Tyr214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Tyr214Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460216",
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Tyr215Cys",
        "hgvsWellDefined": "NP_277042.1:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830123412",
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.638A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Tyr213Cys",
        "hgvsWellDefined": "NP_277043.1:p.Tyr213Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}