{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7172941",
  "communityStandardTitle": [
    "NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320642[alleleid]",
        "alleleId": 320642,
        "preferredName": "NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/313279",
        "RCV": [
          "RCV000379966",
          "RCV002379191"
        ],
        "variationId": 313279
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-50100553-C-G",
        "id": "14-50100553-C-G",
        "variant": "14:50100553 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50100553C>G?assembly=hg19",
        "id": "chr14:g.50100553C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.49633835C>G?assembly=hg38",
        "id": "chr14:g.49633835C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371126037",
        "rs": 371126037
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50100553-C-G?dataset=gnomad_r2_1",
        "id": "14-50100553-C-G",
        "variant": "14:50100553 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-49633835-C-G?dataset=gnomad_r3",
        "id": "14-49633835-C-G",
        "variant": "14:49633835 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-49633835-C-G?dataset=gnomad_r4",
        "id": "14-49633835-C-G",
        "variant": "14:49633835 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 49633835,
          "referenceAllele": "C",
          "start": 49633834
        }
      ],
      "hgvs": [
        "NC_000014.9:g.49633835C>G",
        "CM000676.2:g.49633835C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 50100553,
          "referenceAllele": "C",
          "start": 50100552
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50100553C>G",
        "CM000676.1:g.50100553C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 49170303,
          "referenceAllele": "C",
          "start": 49170302
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49170303C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6396,
          "referenceAllele": "G",
          "start": 6395
        }
      ],
      "hgvs": [
        "NG_013070.1:g.6396G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002699"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.13:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Asp439His",
        "hgvsWellDefined": "ENSP00000298292.8:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.1315G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.1315G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Asp439His"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Asp439His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.12:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Asp439His",
        "hgvsWellDefined": "ENSP00000298292.8:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000406043.3:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384862.3:p.Asp439His",
        "hgvsWellDefined": "ENSP00000384862.3:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.1:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Asp439His",
        "hgvsWellDefined": "NP_001077377.1:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506610",
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.2:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Asp439His",
        "hgvsWellDefined": "NP_060609.2:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.2:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Asp439His",
        "hgvsWellDefined": "NP_001077377.1:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001378453.1:c.-557G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365382.1:n.-557G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506610",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.3:c.1315G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Asp439His",
        "hgvsWellDefined": "NP_060609.2:p.Asp439His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.1315G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.1315G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Asp439His"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Asp439His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}