{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2715852",
  "communityStandardTitle": [
    "NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229036[alleleid]",
        "alleleId": 229036,
        "preferredName": "NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228475",
        "RCV": [
          "RCV000214679",
          "RCV000233515",
          "RCV003417772"
        ],
        "variationId": 228475
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-180359781-C-A",
        "id": "3-180359781-C-A",
        "variant": "3:180359781 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180359781C>A?assembly=hg19",
        "id": "chr3:g.180359781C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180641993C>A?assembly=hg38",
        "id": "chr3:g.180641993C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769223754",
        "rs": 769223754
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180359781-C-A?dataset=gnomad_r2_1",
        "id": "3-180359781-C-A",
        "variant": "3:180359781 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180641993-C-A?dataset=gnomad_r3",
        "id": "3-180641993-C-A",
        "variant": "3:180641993 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180641993-C-A?dataset=gnomad_r4",
        "id": "3-180641993-C-A",
        "variant": "3:180641993 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180641993,
          "referenceAllele": "C",
          "start": 180641992
        }
      ],
      "hgvs": [
        "NC_000003.12:g.180641993C>A",
        "CM000665.2:g.180641993C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180359781,
          "referenceAllele": "C",
          "start": 180359780
        }
      ],
      "hgvs": [
        "NC_000003.11:g.180359781C>A",
        "CM000665.1:g.180359781C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 181842475,
          "referenceAllele": "C",
          "start": 181842474
        }
      ],
      "hgvs": [
        "NC_000003.10:g.181842475C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42503,
          "referenceAllele": "G",
          "start": 42502
        }
      ],
      "hgvs": [
        "NG_029581.1:g.42503G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000476379.6:c.1874G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.2:p.Ser625Ile",
        "hgvsWellDefined": "ENSP00000417960.2:p.Ser625Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757188",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1874G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1874G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Ser625Ile"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Ser625Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650641.1:n.1761G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "G",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651046.1:c.1682G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499175.1:p.Ser561Ile",
        "hgvsWellDefined": "ENSP00000499175.1:p.Ser561Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651922.1:n.1199G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652408.1:n.2011G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "hgvs": [
        "ENST00000442201.6:c.1874G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405708.2:p.Ser625Ile",
        "hgvsWellDefined": "ENSP00000405708.2:p.Ser625Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "hgvs": [
        "ENST00000476379.5:c.1874G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.1:p.Ser625Ile",
        "hgvsWellDefined": "ENSP00000417960.1:p.Ser625Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380413",
      "coordinates": [
        {
          "allele": "T",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.1:c.1874G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Ser625Ile",
        "hgvsWellDefined": "NP_852091.1:p.Ser625Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380413",
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.2:c.1874G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Ser625Ile",
        "hgvsWellDefined": "NP_852091.1:p.Ser625Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1874G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1874G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Ser625Ile"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Ser625Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}