{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA443239311",
  "communityStandardTitle": [
    "NM_001003841.3(SLC6A19):c.57T>C (p.Ala19=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1201822T>C?assembly=hg19",
        "id": "chr5:g.1201822T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1201707,
          "referenceAllele": "T",
          "start": 1201706
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1201707T>C",
        "CM000667.2:g.1201707T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1201822,
          "referenceAllele": "T",
          "start": 1201821
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1201822T>C",
        "CM000667.1:g.1201822T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1254822,
          "referenceAllele": "T",
          "start": 1254821
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1254822T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5113,
          "referenceAllele": "T",
          "start": 5112
        }
      ],
      "hgvs": [
        "NG_008282.1:g.5113T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "ENST00000304460.11:c.57T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305302.10:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304460.11:c.57T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001003841.3:c.57T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305302.10:p.Ala19="
          },
          "RefSeq": {
            "hgvs": "NP_001003841.1:p.Ala19="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "ENST00000304460.10:c.57T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305302.10:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "ENST00000515652.5:c.57T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425701.1:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071874044",
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "NM_001003841.2:c.57T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003841.1:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071874044",
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027960",
      "geneNCBI_id": 340024,
      "geneSymbol": "SLC6A19",
      "hgvs": [
        "NM_001003841.3:c.57T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003841.1:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304460.11:c.57T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001003841.3:c.57T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305302.10:p.Ala19="
          },
          "RefSeq": {
            "hgvs": "NP_001003841.1:p.Ala19="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}