{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2715989",
  "communityStandardTitle": [
    "NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=290345[alleleid]",
        "alleleId": 290345,
        "preferredName": "NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/344271",
        "RCV": [
          "RCV000404264",
          "RCV000601626",
          "RCV001094814"
        ],
        "variationId": 344271
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-180366117-C-A",
        "id": "3-180366117-C-A",
        "variant": "3:180366117 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180366117C>A?assembly=hg19",
        "id": "chr3:g.180366117C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180648329C>A?assembly=hg38",
        "id": "chr3:g.180648329C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147383873",
        "rs": 147383873
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180366117-C-A?dataset=gnomad_r2_1",
        "id": "3-180366117-C-A",
        "variant": "3:180366117 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180648329-C-A?dataset=gnomad_r3",
        "id": "3-180648329-C-A",
        "variant": "3:180648329 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180648329-C-A?dataset=gnomad_r4",
        "id": "3-180648329-C-A",
        "variant": "3:180648329 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180648329,
          "referenceAllele": "C",
          "start": 180648328
        }
      ],
      "hgvs": [
        "NC_000003.12:g.180648329C>A",
        "CM000665.2:g.180648329C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180366117,
          "referenceAllele": "C",
          "start": 180366116
        }
      ],
      "hgvs": [
        "NC_000003.11:g.180366117C>A",
        "CM000665.1:g.180366117C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 181848811,
          "referenceAllele": "C",
          "start": 181848810
        }
      ],
      "hgvs": [
        "NC_000003.10:g.181848811C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36167,
          "referenceAllele": "G",
          "start": 36166
        }
      ],
      "hgvs": [
        "NG_029581.1:g.36167G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "G",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000476379.6:c.1198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.2:p.Gly400Cys",
        "hgvsWellDefined": "ENSP00000417960.2:p.Gly400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757188",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1198G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1198G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Gly400Cys"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Gly400Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650641.1:n.1085G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650889.1:n.1589G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651046.1:c.1006G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499175.1:p.Gly336Cys",
        "hgvsWellDefined": "ENSP00000499175.1:p.Gly336Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651818.1:n.1148G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651922.1:n.523G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652024.1:n.1097G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652408.1:n.1335G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "hgvs": [
        "ENST00000442201.6:c.1198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405708.2:p.Gly400Cys",
        "hgvsWellDefined": "ENSP00000405708.2:p.Gly400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "hgvs": [
        "ENST00000476379.5:c.1198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.1:p.Gly400Cys",
        "hgvsWellDefined": "ENSP00000417960.1:p.Gly400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.1:c.1198G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Gly400Cys",
        "hgvsWellDefined": "NP_852091.1:p.Gly400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "G",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.2:c.1198G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Gly400Cys",
        "hgvsWellDefined": "NP_852091.1:p.Gly400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1198G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1198G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Gly400Cys"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Gly400Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}