{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371754152",
  "communityStandardTitle": [
    "NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3083963[alleleid]",
        "alleleId": 3083963,
        "preferredName": "NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2930893",
        "RCV": [
          "RCV003782155"
        ],
        "variationId": 2930893
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.97172916T>C?assembly=hg19",
        "id": "chr8:g.97172916T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.96160688T>C?assembly=hg38",
        "id": "chr8:g.96160688T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2487850052",
        "rs": 2487850052
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-96160688-T-C?dataset=gnomad_r4",
        "id": "8-96160688-T-C",
        "variant": "8:96160688 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 96160688,
          "referenceAllele": "T",
          "start": 96160687
        }
      ],
      "hgvs": [
        "NC_000008.11:g.96160688T>C",
        "CM000670.2:g.96160688T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 97172916,
          "referenceAllele": "T",
          "start": 97172915
        }
      ],
      "hgvs": [
        "NC_000008.10:g.97172916T>C",
        "CM000670.1:g.97172916T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 97242092,
          "referenceAllele": "T",
          "start": 97242091
        }
      ],
      "hgvs": [
        "NC_000008.9:g.97242092T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5105,
          "referenceAllele": "A",
          "start": 5104
        }
      ],
      "hgvs": [
        "NG_008981.1:g.5105A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001352"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000287020.7:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287020.4:p.Asp2Gly",
        "hgvsWellDefined": "ENSP00000287020.4:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287020.7:c.5A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001001557.4:c.5A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287020.4:p.Asp2Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001001557.1:p.Asp2Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105,
          "referenceAllele": "A",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000287020.6:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287020.4:p.Asp2Gly",
        "hgvsWellDefined": "ENSP00000287020.4:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "A",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000620978.1:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480170.1:p.Asp2Gly",
        "hgvsWellDefined": "ENSP00000480170.1:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "referenceAllele": "A",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "ENST00000621429.1:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483711.1:p.Asp2Gly",
        "hgvsWellDefined": "ENSP00000483711.1:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741818980",
      "coordinates": [
        {
          "allele": "G",
          "end": 105,
          "referenceAllele": "A",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.2:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Asp2Gly",
        "hgvsWellDefined": "NP_001001557.1:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741818980",
      "coordinates": [
        {
          "allele": "G",
          "end": 105,
          "referenceAllele": "A",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.3:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Asp2Gly",
        "hgvsWellDefined": "NP_001001557.1:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741818980",
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NM_001001557.4:c.5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001557.1:p.Asp2Gly",
        "hgvsWellDefined": "NP_001001557.1:p.Asp2Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287020.7:c.5A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001001557.4:c.5A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287020.4:p.Asp2Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001001557.1:p.Asp2Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}