{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10631741",
  "communityStandardTitle": [
    "NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315503[alleleid]",
        "alleleId": 315503,
        "preferredName": "NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364047",
        "RCV": [
          "RCV000298662",
          "RCV001200311",
          "RCV001861334",
          "RCV004022085"
        ],
        "variationId": 364047
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.97157389G>A?assembly=hg19",
        "id": "chr8:g.97157389G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.96145161G>A?assembly=hg38",
        "id": "chr8:g.96145161G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886063208",
        "rs": 886063208
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-97157389-G-A?dataset=gnomad_r2_1",
        "id": "8-97157389-G-A",
        "variant": "8:97157389 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-96145161-G-A?dataset=gnomad_r3",
        "id": "8-96145161-G-A",
        "variant": "8:96145161 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-96145161-G-A?dataset=gnomad_r4",
        "id": "8-96145161-G-A",
        "variant": "8:96145161 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 96145161,
          "referenceAllele": "G",
          "start": 96145160
        }
      ],
      "hgvs": [
        "NC_000008.11:g.96145161G>A",
        "CM000670.2:g.96145161G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 97157389,
          "referenceAllele": "G",
          "start": 97157388
        }
      ],
      "hgvs": [
        "NC_000008.10:g.97157389G>A",
        "CM000670.1:g.97157389G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 97226565,
          "referenceAllele": "G",
          "start": 97226564
        }
      ],
      "hgvs": [
        "NC_000008.9:g.97226565G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20632,
          "referenceAllele": "C",
          "start": 20631
        }
      ],
      "hgvs": [
        "NG_008981.1:g.20632C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001352"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000287020.7:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287020.4:p.Pro257Leu",
        "hgvsWellDefined": "ENSP00000287020.4:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287020.7:c.770C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001001557.4:c.770C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287020.4:p.Pro257Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001001557.1:p.Pro257Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000287020.6:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287020.4:p.Pro257Leu",
        "hgvsWellDefined": "ENSP00000287020.4:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000620978.1:c.708C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480170.1:p.Ala236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000621429.1:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483711.1:p.Pro257Leu",
        "hgvsWellDefined": "ENSP00000483711.1:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645382304",
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.2:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Pro257Leu",
        "hgvsWellDefined": "NP_001001557.1:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "XM_011517030.1:c.371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515332.1:p.Pro124Leu",
        "hgvsWellDefined": "XP_011515332.1:p.Pro124Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645382304",
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.3:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Pro257Leu",
        "hgvsWellDefined": "NP_001001557.1:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645382304",
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.4:c.770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Pro257Leu",
        "hgvsWellDefined": "NP_001001557.1:p.Pro257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287020.7:c.770C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001001557.4:c.770C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287020.4:p.Pro257Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001001557.1:p.Pro257Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}