{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2300890559",
  "communityStandardTitle": [
    "NM_001384474.1(LOXHD1):c.2497C= (p.Arg833=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/188119157",
        "rs": 188119157
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 46563166,
          "referenceAllele": "G",
          "start": 46563165
        }
      ],
      "hgvs": [
        "NC_000018.10:g.46563166G=",
        "CM000680.2:g.46563166G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 44143129,
          "referenceAllele": "G",
          "start": 44143128
        }
      ],
      "hgvs": [
        "NC_000018.9:g.44143129G=",
        "CM000680.1:g.44143129G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 42397127,
          "referenceAllele": "G",
          "start": 42397126
        }
      ],
      "hgvs": [
        "NC_000018.8:g.42397127G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98868,
          "referenceAllele": "C",
          "start": 98867
        }
      ],
      "hgvs": [
        "NG_016646.1:g.98868C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98868,
          "referenceAllele": "C",
          "start": 98867
        }
      ],
      "hgvs": [
        "NG_016646.2:g.98868C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "referenceAllele": "C",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000642948.1:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496347.1:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642948.1:c.2497C="
          },
          "RefSeq": {
            "hgvs": "NM_001384474.1:c.2497C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496347.1:p.Arg833="
          },
          "RefSeq": {
            "hgvs": "NP_001371403.1:p.Arg833="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000335730.6:n.1810C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS260182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000441551.6:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387621.2:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000536736.5:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444586.1:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085457538",
      "coordinates": [
        {
          "allele": "C",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_144612.6:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653213.6:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2578,
          "referenceAllele": "C",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525803.1:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524105.1:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525804.1:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524106.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525804.2:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524106.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_017025548.1:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881037.1:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451084.1:c.979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306852.1:p.Arg327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "referenceAllele": "C",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001384474.1:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371403.1:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642948.1:c.2497C="
          },
          "RefSeq": {
            "hgvs": "NM_001384474.1:c.2497C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496347.1:p.Arg833="
          },
          "RefSeq": {
            "hgvs": "NP_001371403.1:p.Arg833="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085457538",
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "referenceAllele": "C",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_144612.7:c.2497C="
      ],
      "proteinEffect": {
        "hgvs": "NP_653213.6:p.Arg833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729239"
    }
  ],
  "type": "nucleotide"
}