{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA223516",
  "communityStandardTitle": [
    "NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23307[alleleid]",
        "alleleId": 23307,
        "preferredName": "NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8268",
        "RCV": [
          "RCV000008757",
          "RCV000081931"
        ],
        "variationId": 8268
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-72195385-C-T",
        "id": "10-72195385-C-T",
        "variant": "10:72195385 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.72195385C>T?assembly=hg19",
        "id": "chr10:g.72195385C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.70435629C>T?assembly=hg38",
        "id": "chr10:g.70435629C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894169",
        "rs": 104894169
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-72195385-C-T?dataset=gnomad_r2_1",
        "id": "10-72195385-C-T",
        "variant": "10:72195385 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70435629-C-T?dataset=gnomad_r3",
        "id": "10-70435629-C-T",
        "variant": "10:70435629 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70435629-C-T?dataset=gnomad_r4",
        "id": "10-70435629-C-T",
        "variant": "10:70435629 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 70435629,
          "referenceAllele": "C",
          "start": 70435628
        }
      ],
      "hgvs": [
        "NC_000010.11:g.70435629C>T",
        "CM000672.2:g.70435629C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 72195385,
          "referenceAllele": "C",
          "start": 72195384
        }
      ],
      "hgvs": [
        "NC_000010.10:g.72195385C>T",
        "CM000672.1:g.72195385C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71865391,
          "referenceAllele": "C",
          "start": 71865390
        }
      ],
      "hgvs": [
        "NC_000010.9:g.71865391C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11081,
          "referenceAllele": "G",
          "start": 11080
        }
      ],
      "hgvs": [
        "NG_012448.1:g.11081G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17320,
          "referenceAllele": "G",
          "start": 17319
        }
      ],
      "hgvs": [
        "NG_012448.2:g.17320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616180"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "ENST00000287139.8:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287139.3:p.Arg183Gln",
        "hgvsWellDefined": "ENSP00000287139.3:p.Arg183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287139.8:c.548G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018055.5:c.548G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287139.3:p.Arg183Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060525.3:p.Arg183Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "ENST00000287139.7:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287139.3:p.Arg183Gln",
        "hgvsWellDefined": "ENSP00000287139.3:p.Arg183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "ENST00000414871.1:c.383G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394468.1:p.Arg128Gln",
        "hgvsWellDefined": "ENSP00000394468.1:p.Arg128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283729"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102412",
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "NM_018055.4:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060525.3:p.Arg183Gln",
        "hgvsWellDefined": "NP_060525.3:p.Arg183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027783",
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "NM_001329906.1:c.149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316835.1:p.Arg50Gln",
        "hgvsWellDefined": "NP_001316835.1:p.Arg50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "XM_024448028.1:c.149G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303796.1:p.Arg50Gln",
        "hgvsWellDefined": "XP_024303796.1:p.Arg50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102412",
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "NM_018055.5:c.548G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060525.3:p.Arg183Gln",
        "hgvsWellDefined": "NP_060525.3:p.Arg183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287139.8:c.548G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018055.5:c.548G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287139.3:p.Arg183Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060525.3:p.Arg183Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027783",
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007865",
      "geneNCBI_id": 4838,
      "geneSymbol": "NODAL",
      "hgvs": [
        "NM_001329906.2:c.149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316835.1:p.Arg50Gln",
        "hgvsWellDefined": "NP_001316835.1:p.Arg50Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718577"
    }
  ],
  "type": "nucleotide"
}