{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1557731354",
  "communityStandardTitle": [
    "NM_001713.3(BHMT):c.33+1319C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/651852",
        "rs": 651852
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 79113237,
          "referenceAllele": "C",
          "start": 79113236
        }
      ],
      "hgvs": [
        "NC_000005.10:g.79113237C=",
        "CM000667.2:g.79113237C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 78409060,
          "referenceAllele": "C",
          "start": 78409059
        }
      ],
      "hgvs": [
        "NC_000005.9:g.78409060C=",
        "CM000667.1:g.78409060C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 78444816,
          "referenceAllele": "C",
          "start": 78444815
        }
      ],
      "hgvs": [
        "NC_000005.8:g.78444816C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6457,
          "referenceAllele": "C",
          "start": 6456
        }
      ],
      "hgvs": [
        "NG_029156.1:g.6457C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004283"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "ENST00000274353.10:c.33+1319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274353.5:n.33+1319C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743339",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274353.10:c.33+1319C="
          },
          "RefSeq": {
            "hgvs": "NM_001713.3:c.33+1319C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274353.5:n.33+1319C="
          },
          "RefSeq": {
            "hgvs": "NP_001704.2:n.33+1319C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "ENST00000274353.9:c.33+1319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274353.5:n.33+1319C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "ENST00000520335.5:n.110+1319C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 7104,
          "referenceAllele": "G",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 7103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024475",
      "geneNCBI_id": 29958,
      "geneSymbol": "DMGDH",
      "hgvs": [
        "ENST00000520388.5:n.491+7104G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "ENST00000520703.1:n.110+1319C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "ENST00000524080.1:c.33+1319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428240.1:n.33+1319C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "NM_001713.2:c.33+1319C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001704.2:n.33+1319C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "C",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001047",
      "geneNCBI_id": 635,
      "geneSymbol": "BHMT",
      "hgvs": [
        "NM_001713.3:c.33+1319C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001704.2:n.33+1319C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274353.10:c.33+1319C="
          },
          "RefSeq": {
            "hgvs": "NM_001713.3:c.33+1319C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274353.5:n.33+1319C="
          },
          "RefSeq": {
            "hgvs": "NP_001704.2:n.33+1319C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}