{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1989919685",
  "communityStandardTitle": [
    "NM_000372.5(TYR):c.265T= (p.Cys89=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940877",
        "rs": 28940877
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 89178218,
          "referenceAllele": "T",
          "start": 89178217
        }
      ],
      "hgvs": [
        "NC_000011.10:g.89178218T=",
        "CM000673.2:g.89178218T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 88911386,
          "referenceAllele": "T",
          "start": 88911385
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88911386T=",
        "CM000673.1:g.88911386T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 88551034,
          "referenceAllele": "T",
          "start": 88551033
        }
      ],
      "hgvs": [
        "NC_000011.8:g.88551034T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5347,
          "referenceAllele": "T",
          "start": 5346
        }
      ],
      "hgvs": [
        "NG_008748.1:g.5347T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "T",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.6:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.265T="
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.265T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Cys89="
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Cys89="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "T",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.5:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000526139.1:n.326T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077697961",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "T",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.4:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "T",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.1:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.2:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2717,
          "endIntronDirection": "-",
          "endIntronOffset": 64684,
          "referenceAllele": "A",
          "start": 2717,
          "startIntronDirection": "-",
          "startIntronOffset": 64685
        }
      ],
      "hgvs": [
        "XR_001748321.1:n.2718-64685A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2732,
          "endIntronDirection": "-",
          "endIntronOffset": 64684,
          "referenceAllele": "A",
          "start": 2732,
          "startIntronDirection": "-",
          "startIntronOffset": 64685
        }
      ],
      "hgvs": [
        "XR_001748322.1:n.2733-64685A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077697961",
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "T",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.5:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Cys89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.265T="
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.265T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Cys89="
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Cys89="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}