{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2190164110",
  "communityStandardTitle": [
    "NM_006441.4(MTHFS):c.380-17198G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6495446",
        "rs": 6495446
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 79862640,
          "referenceAllele": "C",
          "start": 79862639
        }
      ],
      "hgvs": [
        "NC_000015.10:g.79862640C=",
        "CM000677.2:g.79862640C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 80154982,
          "referenceAllele": "C",
          "start": 80154981
        }
      ],
      "hgvs": [
        "NC_000015.9:g.80154982C=",
        "CM000677.1:g.80154982C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 77942037,
          "referenceAllele": "C",
          "start": 77942036
        }
      ],
      "hgvs": [
        "NC_000015.8:g.77942037C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39646,
          "referenceAllele": "G",
          "start": 39645
        }
      ],
      "hgvs": [
        "NG_029243.1:g.39646G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "ENST00000258874.4:c.380-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258874.4:n.380-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741941",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258874.4:c.380-17198G="
          },
          "RefSeq": {
            "hgvs": "NM_006441.4:c.380-17198G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258874.4:n.380-17198G="
          },
          "RefSeq": {
            "hgvs": "NP_006432.1:n.380-17198G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "ENST00000258874.3:c.380-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258874.3:n.380-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044655",
      "geneNCBI_id": 100528021,
      "geneSymbol": "ST20-MTHFS",
      "hgvs": [
        "ENST00000479961.1:c.308-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455643.1:n.308-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044655",
      "geneNCBI_id": 100528021,
      "geneSymbol": "ST20-MTHFS",
      "hgvs": [
        "ENST00000494999.1:c.302-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489298.1:n.302-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "ENST00000559722.2:c.467-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489076.1:n.467-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 386,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044655",
      "geneNCBI_id": 100528021,
      "geneSymbol": "ST20-MTHFS",
      "hgvs": [
        "ENST00000615374.5:c.308-17198G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489525.1:n.308-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "NM_001199758.1:c.209-17198G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186687.1:n.209-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017190"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 386,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044655",
      "geneNCBI_id": 100528021,
      "geneSymbol": "ST20-MTHFS",
      "hgvs": [
        "NM_001199760.1:c.308-17198G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186689.1:n.308-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "NM_006441.3:c.380-17198G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006432.1:n.380-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 469,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "NR_037654.1:n.470-17198G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "NM_006441.4:c.380-17198G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006432.1:n.380-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258874.4:c.380-17198G="
          },
          "RefSeq": {
            "hgvs": "NM_006441.4:c.380-17198G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258874.4:n.380-17198G="
          },
          "RefSeq": {
            "hgvs": "NP_006432.1:n.380-17198G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044655",
      "geneNCBI_id": 100528021,
      "geneSymbol": "ST20-MTHFS",
      "hgvs": [
        "NM_001199760.2:c.308-17198G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186689.1:n.308-17198G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 17197,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 17198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007437",
      "geneNCBI_id": 10588,
      "geneSymbol": "MTHFS",
      "hgvs": [
        "NR_037654.2:n.487-17198G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730350"
    }
  ],
  "type": "nucleotide"
}