{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1558436668",
  "communityStandardTitle": [
    "NM_000791.4(DHFR):c.238C= (p.Leu80=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906619",
        "rs": 387906619
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 80649393,
          "referenceAllele": "G",
          "start": 80649392
        }
      ],
      "hgvs": [
        "NC_000005.10:g.80649393G=",
        "CM000667.2:g.80649393G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 79945212,
          "referenceAllele": "G",
          "start": 79945211
        }
      ],
      "hgvs": [
        "NC_000005.9:g.79945212G=",
        "CM000667.1:g.79945212G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 79980968,
          "referenceAllele": "G",
          "start": 79980967
        }
      ],
      "hgvs": [
        "NC_000005.8:g.79980968G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10589,
          "referenceAllele": "C",
          "start": 10588
        }
      ],
      "hgvs": [
        "NG_023304.1:g.10589C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003783"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000439211.7:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396308.2:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439211.7:c.238C="
          },
          "RefSeq": {
            "hgvs": "NM_000791.4:c.238C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396308.2:p.Leu80="
          },
          "RefSeq": {
            "hgvs": "NP_000782.1:p.Leu80="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000439211.6:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396308.2:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000504396.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421334.1:p.Leu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000505337.5:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426474.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000508282.1:n.196C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000511032.5:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422732.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000513048.5:n.246C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "C",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "ENST00000513314.1:n.130C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071044985",
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_000791.3:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000782.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_001290354.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277283.1:p.Leu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249494642",
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_001290357.1:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277286.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NR_110936.1:n.680C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071044985",
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_000791.4:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000782.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439211.7:c.238C="
          },
          "RefSeq": {
            "hgvs": "NM_000791.4:c.238C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396308.2:p.Leu80="
          },
          "RefSeq": {
            "hgvs": "NP_000782.1:p.Leu80="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_001290354.2:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277283.1:p.Leu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249494642",
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NM_001290357.2:c.238C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277286.1:p.Leu80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002861",
      "geneNCBI_id": 1719,
      "geneSymbol": "DHFR",
      "hgvs": [
        "NR_110936.2:n.682C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703161"
    }
  ],
  "type": "nucleotide"
}