{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15487549",
  "communityStandardTitle": [
    "NM_006409.4(ARPC1A):c.983+519C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.98957880C>T?assembly=hg19",
        "id": "chr7:g.98957880C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99360257C>T?assembly=hg38",
        "id": "chr7:g.99360257C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/740160",
        "rs": 740160
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-98957880-C-T?dataset=gnomad_r2_1",
        "id": "7-98957880-C-T",
        "variant": "7:98957880 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99360257-C-T?dataset=gnomad_r3",
        "id": "7-99360257-C-T",
        "variant": "7:99360257 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99360257-C-T?dataset=gnomad_r4",
        "id": "7-99360257-C-T",
        "variant": "7:99360257 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99360257,
          "referenceAllele": "C",
          "start": 99360256
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99360257C>T",
        "CM000669.2:g.99360257C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 98957880,
          "referenceAllele": "C",
          "start": 98957879
        }
      ],
      "hgvs": [
        "NC_000007.13:g.98957880C>T",
        "CM000669.1:g.98957880C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 98795816,
          "referenceAllele": "C",
          "start": 98795815
        }
      ],
      "hgvs": [
        "NC_000007.12:g.98795816C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "ENST00000262942.10:c.983+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262942.5:n.983+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742422",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262942.10:c.983+519C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006409.4:c.983+519C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262942.5:n.983+519C>T"
          },
          "RefSeq": {
            "hgvs": "NP_006400.2:n.983+519C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "hgvs": [
        "ENST00000638617.1:c.983+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491073.1:n.983+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1107,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "ENST00000262942.9:c.983+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262942.5:n.983+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1089,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "ENST00000432786.5:c.*142+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408711.1:n.*142+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "ENST00000441989.6:c.*1005+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412879.1:n.*1005+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "ENST00000463009.1:n.304+519C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1142,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "NM_001190996.1:c.941+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177925.1:n.941+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1144,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "NM_006409.3:c.983+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006400.2:n.983+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "NM_006409.4:c.983+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006400.2:n.983+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262942.10:c.983+519C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006409.4:c.983+519C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262942.5:n.983+519C>T"
          },
          "RefSeq": {
            "hgvs": "NP_006400.2:n.983+519C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 519,
          "referenceAllele": "C",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000703",
      "geneNCBI_id": 10552,
      "geneSymbol": "ARPC1A",
      "hgvs": [
        "NM_001190996.2:c.941+519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177925.1:n.941+519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713708"
    }
  ],
  "type": "nucleotide"
}