{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1941460046",
  "communityStandardTitle": [
    "NM_002775.5(HTRA1):c.451C= (p.Gln151=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754645487",
        "rs": 754645487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 122462103,
          "referenceAllele": "C",
          "start": 122462102
        }
      ],
      "hgvs": [
        "NC_000010.11:g.122462103C=",
        "CM000672.2:g.122462103C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 124221619,
          "referenceAllele": "C",
          "start": 124221618
        }
      ],
      "hgvs": [
        "NC_000010.10:g.124221619C=",
        "CM000672.1:g.124221619C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 124211609,
          "referenceAllele": "C",
          "start": 124211608
        }
      ],
      "hgvs": [
        "NC_000010.9:g.124211609C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5579,
          "referenceAllele": "C",
          "start": 5578
        }
      ],
      "hgvs": [
        "NG_011554.1:g.5579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001813"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009476",
      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
        "ENST00000368984.8:c.451C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357980.3:p.Gln151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368984.8:c.451C="
          },
          "RefSeq": {
            "hgvs": "NM_002775.5:c.451C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357980.3:p.Gln151="
          },
          "RefSeq": {
            "hgvs": "NP_002766.1:p.Gln151="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 3394,
          "referenceAllele": "C",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 3393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009476",
      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
        "ENST00000648167.1:c.154+3394C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498033.1:n.154+3394C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009476",
      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
        "ENST00000368984.7:c.451C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357980.3:p.Gln151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076861085",
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009476",
      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
        "NM_002775.4:c.451C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002766.1:p.Gln151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076861085",
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009476",
      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
        "NM_002775.5:c.451C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002766.1:p.Gln151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368984.8:c.451C="
          },
          "RefSeq": {
            "hgvs": "NM_002775.5:c.451C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357980.3:p.Gln151="
          },
          "RefSeq": {
            "hgvs": "NP_002766.1:p.Gln151="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}