{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9832401",
  "communityStandardTitle": [
    "NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=886052[alleleid]",
        "alleleId": 886052,
        "preferredName": "NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/895673",
        "RCV": [
          "RCV001137920",
          "RCV001137922",
          "RCV001137919",
          "RCV001137921",
          "RCV001137923"
        ],
        "variationId": 895673
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-34025503-G-C",
        "id": "20-34025503-G-C",
        "variant": "20:34025503 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.34025503G>C?assembly=hg19",
        "id": "chr20:g.34025503G>C"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.34025503_34025506delinsCCCC?assembly=hg19",
        "id": "chr20:g.34025503_34025506delinsCCCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.35437723G>C?assembly=hg38",
        "id": "chr20:g.35437723G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/542574339",
        "rs": 542574339
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-34025503-G-C?dataset=gnomad_r2_1",
        "id": "20-34025503-G-C",
        "variant": "20:34025503 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-35437723-G-C?dataset=gnomad_r3",
        "id": "20-35437723-G-C",
        "variant": "20:35437723 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-35437723-G-C?dataset=gnomad_r4",
        "id": "20-35437723-G-C",
        "variant": "20:35437723 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 35437723,
          "referenceAllele": "G",
          "start": 35437722
        }
      ],
      "hgvs": [
        "NC_000020.11:g.35437723G>C",
        "CM000682.2:g.35437723G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 34025503,
          "referenceAllele": "G",
          "start": 34025502
        }
      ],
      "hgvs": [
        "NC_000020.10:g.34025503G>C",
        "CM000682.1:g.34025503G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 33488917,
          "referenceAllele": "G",
          "start": 33488916
        }
      ],
      "hgvs": [
        "NC_000020.9:g.33488917G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5497,
          "referenceAllele": "C",
          "start": 5496
        }
      ],
      "hgvs": [
        "NG_008076.2:g.5497C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22024,
          "referenceAllele": "C",
          "start": 22023
        }
      ],
      "hgvs": [
        "NG_008076.3:g.22024C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374369.8:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363489.3:p.Ala69Gly",
        "hgvsWellDefined": "ENSP00000363489.3:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374369.8:c.206C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000557.5:c.206C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363489.3:p.Ala69Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000548.2:p.Ala69Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374369.7:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363489.3:p.Ala69Gly",
        "hgvsWellDefined": "ENSP00000363489.3:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "ENST00000374372.1:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363492.1:p.Ala69Gly",
        "hgvsWellDefined": "ENSP00000363492.1:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825196635",
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_000557.4:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000548.2:p.Ala69Gly",
        "hgvsWellDefined": "NP_000548.2:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "XM_011529075.1:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527377.1:p.Ala69Gly",
        "hgvsWellDefined": "XP_011527377.1:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "XM_011529076.1:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527378.1:p.Ala69Gly",
        "hgvsWellDefined": "XP_011527378.1:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139695679",
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_001319138.1:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306067.1:p.Ala69Gly",
        "hgvsWellDefined": "NP_001306067.1:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825196635",
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_000557.5:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000548.2:p.Ala69Gly",
        "hgvsWellDefined": "NP_000548.2:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374369.8:c.206C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000557.5:c.206C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363489.3:p.Ala69Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000548.2:p.Ala69Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139695679",
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NM_001319138.2:c.206C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306067.1:p.Ala69Gly",
        "hgvsWellDefined": "NP_001306067.1:p.Ala69Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684730"
    }
  ],
  "type": "nucleotide"
}