{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119575",
  "communityStandardTitle": [
    "NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23430[alleleid]",
        "alleleId": 23430,
        "preferredName": "NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8391",
        "RCV": [
          "RCV000008899"
        ],
        "variationId": 8391
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.34021752A>C?assembly=hg19",
        "id": "chr20:g.34021752A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.35433954A>C?assembly=hg38",
        "id": "chr20:g.35433954A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909348",
        "rs": 121909348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 35433954,
          "referenceAllele": "A",
          "start": 35433953
        }
      ],
      "hgvs": [
        "NC_000020.11:g.35433954A>C",
        "CM000682.2:g.35433954A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 34021752,
          "referenceAllele": "A",
          "start": 34021751
        }
      ],
      "hgvs": [
        "NC_000020.10:g.34021752A>C",
        "CM000682.1:g.34021752A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 33485166,
          "referenceAllele": "A",
          "start": 33485165
        }
      ],
      "hgvs": [
        "NC_000020.9:g.33485166A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9266,
          "referenceAllele": "T",
          "start": 9265
        }
      ],
      "hgvs": [
        "NG_008076.2:g.9266T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25793,
          "referenceAllele": "T",
          "start": 25792
        }
      ],
      "hgvs": [
        "NG_008076.3:g.25793T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374369.8:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363489.3:p.Tyr487Ter",
        "hgvsWellDefined": "ENSP00000363489.3:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374369.8:c.1461T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000557.5:c.1461T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363489.3:p.Tyr487Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000548.2:p.Tyr487Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1776,
          "referenceAllele": "T",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374369.7:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363489.3:p.Tyr487Ter",
        "hgvsWellDefined": "ENSP00000363489.3:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1965,
          "referenceAllele": "T",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374372.1:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363492.1:p.Tyr487Ter",
        "hgvsWellDefined": "ENSP00000363492.1:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "A",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033435",
      "geneNCBI_id": 554250,
      "geneSymbol": "GDF5-AS1",
      "hgvs": [
        "ENST00000374375.1:c.-205A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363495.1:n.-205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119576",
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "referenceAllele": "T",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_000557.4:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000548.2:p.Tyr487Ter",
        "hgvsWellDefined": "NP_000548.2:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "T",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "XM_011529075.1:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527377.1:p.Tyr487Ter",
        "hgvsWellDefined": "XP_011527377.1:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1858,
          "referenceAllele": "T",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "XM_011529076.1:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527378.1:p.Tyr487Ter",
        "hgvsWellDefined": "XP_011527378.1:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024264",
      "coordinates": [
        {
          "allele": "G",
          "end": 1965,
          "referenceAllele": "T",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_001319138.1:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306067.1:p.Tyr487Ter",
        "hgvsWellDefined": "NP_001306067.1:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "A",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033435",
      "geneNCBI_id": 554250,
      "geneSymbol": "GDF5-AS1",
      "hgvs": [
        "NM_001355428.1:c.-205A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342357.1:n.-205A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119576",
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_000557.5:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000548.2:p.Tyr487Ter",
        "hgvsWellDefined": "NP_000548.2:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374369.8:c.1461T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000557.5:c.1461T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363489.3:p.Tyr487Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000548.2:p.Tyr487Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024264",
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "T",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_001319138.2:c.1461T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306067.1:p.Tyr487Ter",
        "hgvsWellDefined": "NP_001306067.1:p.Tyr487_Arg501delinsLysGlnTyrGluAspMetValValGluSerCysGlyCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "A",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033435",
      "geneNCBI_id": 554250,
      "geneSymbol": "GDF5-AS1",
      "hgvs": [
        "NR_161326.1:n.238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705318"
    }
  ],
  "type": "nucleotide"
}