{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630856072",
  "communityStandardTitle": [
    "NM_005956.4(MTHFD1):c.1958G= (p.Arg653=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2236225",
        "rs": 2236225
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 64442127,
          "referenceAllele": "G",
          "start": 64442126
        }
      ],
      "hgvs": [
        "NC_000014.9:g.64442127G=",
        "CM000676.2:g.64442127G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 64908845,
          "referenceAllele": "G",
          "start": 64908844
        }
      ],
      "hgvs": [
        "NC_000014.8:g.64908845G=",
        "CM000676.1:g.64908845G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 63978598,
          "referenceAllele": "G",
          "start": 63978597
        }
      ],
      "hgvs": [
        "NC_000014.7:g.63978598G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59087,
          "referenceAllele": "G",
          "start": 59086
        }
      ],
      "hgvs": [
        "NG_012450.1:g.59087G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59087,
          "referenceAllele": "G",
          "start": 59086
        }
      ],
      "hgvs": [
        "NG_012450.2:g.59087G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616182"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000556771.6:n.189G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557539.2:c.1715G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476468.2:p.Arg572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697166.1:n.2107G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697167.1:c.*642G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513155.1:n.*642G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697168.1:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513156.1:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "endIntronDirection": "-",
          "endIntronOffset": 135,
          "referenceAllele": "G",
          "start": 2033,
          "startIntronDirection": "-",
          "startIntronOffset": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697169.1:c.1885-136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513157.1:n.1885-136G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3122,
          "referenceAllele": "G",
          "start": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697170.1:n.3122G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697171.1:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513158.1:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "referenceAllele": "G",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697173.1:c.1715G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513159.1:p.Arg572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697174.1:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513160.1:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2263,
          "referenceAllele": "G",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697175.1:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513161.1:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697176.1:c.1715G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513162.1:p.Arg572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697177.1:n.413G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "referenceAllele": "G",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.6:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.2:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000554768.6:c.1715G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477501.2:p.Arg572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557370.3:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477199.2:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000650853.1:n.3074G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000651537.1:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498511.1:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2652,
          "referenceAllele": "G",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652179.1:c.1715G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498649.1:p.Arg572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652337.1:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498336.1:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.1958G="
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.1958G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:p.Arg653="
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:p.Arg653="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652509.1:c.1191G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2036,
          "referenceAllele": "G",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000216605.12:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216605.8:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "referenceAllele": "G",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.5:c.2126G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.1:p.Arg709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000553405.1:n.280G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000556771.5:n.189G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081099215",
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "G",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.3:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_001364837.1:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351766.1:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081099215",
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.4:c.1958G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:p.Arg653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.1958G="
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.1958G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:p.Arg653="
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:p.Arg653="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}