{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141919606",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.14519T= (p.Leu4840=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143275144",
        "rs": 143275144
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 215648591,
          "referenceAllele": "A",
          "start": 215648590
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215648591A=",
        "CM000663.2:g.215648591A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 215821933,
          "referenceAllele": "A",
          "start": 215821932
        }
      ],
      "hgvs": [
        "NC_000001.10:g.215821933A=",
        "CM000663.1:g.215821933A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 213888556,
          "referenceAllele": "A",
          "start": 213888555
        }
      ],
      "hgvs": [
        "NC_000001.9:g.213888556A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779806,
          "referenceAllele": "T",
          "start": 779805
        }
      ],
      "hgvs": [
        "NG_009497.1:g.779806T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779858,
          "referenceAllele": "T",
          "start": 779857
        }
      ],
      "hgvs": [
        "NG_009497.2:g.779858T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14958,
          "referenceAllele": "T",
          "start": 14957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.14519T="
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.14519T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Leu4840="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Leu4840="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14958,
          "referenceAllele": "T",
          "start": 14957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14906,
          "referenceAllele": "T",
          "start": 14905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14906,
          "referenceAllele": "T",
          "start": 14905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14958,
          "referenceAllele": "T",
          "start": 14957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830521679",
      "coordinates": [
        {
          "allele": "T",
          "end": 14958,
          "referenceAllele": "T",
          "start": 14957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.14519T="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Leu4840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.14519T="
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.14519T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Leu4840="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Leu4840="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}