{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3234495",
  "communityStandardTitle": [
    "NM_001085411.3(NADK2):c.1190+6C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1026622[alleleid]",
        "alleleId": 1026622,
        "preferredName": "NM_001085411.3(NADK2):c.1190+6C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1036792",
        "RCV": [
          "RCV001339850",
          "RCV002546883"
        ],
        "variationId": 1036792
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-36197637-G-A",
        "id": "5-36197637-G-A",
        "variant": "5:36197637 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36197637G>A?assembly=hg19",
        "id": "chr5:g.36197637G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36197535G>A?assembly=hg38",
        "id": "chr5:g.36197535G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377615419",
        "rs": 377615419
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-36197637-G-A?dataset=gnomad_r2_1",
        "id": "5-36197637-G-A",
        "variant": "5:36197637 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-36197535-G-A?dataset=gnomad_r3",
        "id": "5-36197535-G-A",
        "variant": "5:36197535 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-36197535-G-A?dataset=gnomad_r4",
        "id": "5-36197535-G-A",
        "variant": "5:36197535 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36197535,
          "referenceAllele": "G",
          "start": 36197534
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36197535G>A",
        "CM000667.2:g.36197535G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36197637,
          "referenceAllele": "G",
          "start": 36197636
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36197637G>A",
        "CM000667.1:g.36197637G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36233394,
          "referenceAllele": "G",
          "start": 36233393
        }
      ],
      "hgvs": [
        "NC_000005.8:g.36233394G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49745,
          "referenceAllele": "C",
          "start": 49744
        }
      ],
      "hgvs": [
        "NG_041784.1:g.49745C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1317,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000381937.9:c.1190+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371362.4:n.1190+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752598",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381937.9:c.1190+6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001085411.3:c.1190+6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371362.4:n.1190+6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001078880.1:n.1190+6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000282512.7:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282512.3:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000381937.8:c.1190+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371362.4:n.1190+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 923,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000397338.5:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380499.1:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000404560.7:n.919+6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000502355.5:c.274+6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000506945.5:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422250.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 560,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000509225.1:n.560+6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 574,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000511613.5:n.574+6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1094,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000514504.5:c.1094+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421029.1:n.1094+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 605,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "ENST00000617628.4:c.605+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480506.1:n.605+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001085411.2:c.1190+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078880.1:n.1190+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 923,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001287340.1:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274269.1:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001287341.1:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274270.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1074,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_153013.4:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694558.1:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "XM_005248241.3:c.1256+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248298.1:n.1256+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1100,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "XM_011513954.1:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512256.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "XM_011513955.1:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512257.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1352,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "XM_005248241.4:c.1256+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248298.1:n.1256+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1100,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "XM_024454360.1:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310128.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1317,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001085411.3:c.1190+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078880.1:n.1190+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381937.9:c.1190+6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001085411.3:c.1190+6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371362.4:n.1190+6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001078880.1:n.1190+6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 923,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001287340.2:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274269.1:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_001287341.2:c.767+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274270.1:n.767+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1074,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026404",
      "geneNCBI_id": 133686,
      "geneSymbol": "NADK2",
      "hgvs": [
        "NM_153013.5:c.701+6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694558.1:n.701+6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729444"
    }
  ],
  "type": "nucleotide"
}