{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1899314042",
  "communityStandardTitle": [
    "NM_018109.4(MTPAP):c.1432A= (p.Asn478=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606900",
        "rs": 267606900
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 30313926,
          "referenceAllele": "T",
          "start": 30313925
        }
      ],
      "hgvs": [
        "NC_000010.11:g.30313926T=",
        "CM000672.2:g.30313926T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 30602855,
          "referenceAllele": "T",
          "start": 30602854
        }
      ],
      "hgvs": [
        "NC_000010.10:g.30602855T=",
        "CM000672.1:g.30602855T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 30642861,
          "referenceAllele": "T",
          "start": 30642860
        }
      ],
      "hgvs": [
        "NC_000010.9:g.30642861T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40413,
          "referenceAllele": "A",
          "start": 40412
        }
      ],
      "hgvs": [
        "NG_028096.1:g.40413A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025532",
      "geneNCBI_id": 55149,
      "geneSymbol": "MTPAP",
      "hgvs": [
        "ENST00000263063.9:c.1432A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263063.3:p.Asn478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263063.9:c.1432A="
          },
          "RefSeq": {
            "hgvs": "NM_018109.4:c.1432A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263063.3:p.Asn478="
          },
          "RefSeq": {
            "hgvs": "NP_060579.3:p.Asn478="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1476,
          "referenceAllele": "A",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025532",
      "geneNCBI_id": 55149,
      "geneSymbol": "MTPAP",
      "hgvs": [
        "ENST00000263063.8:c.1432A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263063.3:p.Asn478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3187,
          "referenceAllele": "A",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025532",
      "geneNCBI_id": 55149,
      "geneSymbol": "MTPAP",
      "hgvs": [
        "ENST00000488290.5:n.3187A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076745173",
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025532",
      "geneNCBI_id": 55149,
      "geneSymbol": "MTPAP",
      "hgvs": [
        "NM_018109.3:c.1432A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060579.3:p.Asn478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076745173",
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025532",
      "geneNCBI_id": 55149,
      "geneSymbol": "MTPAP",
      "hgvs": [
        "NM_018109.4:c.1432A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060579.3:p.Asn478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263063.9:c.1432A="
          },
          "RefSeq": {
            "hgvs": "NM_018109.4:c.1432A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263063.3:p.Asn478="
          },
          "RefSeq": {
            "hgvs": "NP_060579.3:p.Asn478="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}