{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5419698",
  "communityStandardTitle": [
    "NM_003638.3(ITGA8):c.2880+46T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1215134[alleleid]",
        "alleleId": 1215134,
        "preferredName": "NM_003638.3(ITGA8):c.2880+46T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1227742",
        "RCV": [
          "RCV001611724"
        ],
        "variationId": 1227742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-15590408-A-G",
        "id": "10-15590408-A-G",
        "variant": "10:15590408 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.15590408A>G?assembly=hg19",
        "id": "chr10:g.15590408A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.15548409A>G?assembly=hg38",
        "id": "chr10:g.15548409A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9333226",
        "rs": 9333226
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-15590408-A-G?dataset=gnomad_r2_1",
        "id": "10-15590408-A-G",
        "variant": "10:15590408 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-15548409-A-G?dataset=gnomad_r3",
        "id": "10-15548409-A-G",
        "variant": "10:15548409 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-15548409-A-G?dataset=gnomad_r4",
        "id": "10-15548409-A-G",
        "variant": "10:15548409 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 15548409,
          "referenceAllele": "A",
          "start": 15548408
        }
      ],
      "hgvs": [
        "NC_000010.11:g.15548409A>G",
        "CM000672.2:g.15548409A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 15590408,
          "referenceAllele": "A",
          "start": 15590407
        }
      ],
      "hgvs": [
        "NC_000010.10:g.15590408A>G",
        "CM000672.1:g.15590408A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 15630414,
          "referenceAllele": "A",
          "start": 15630413
        }
      ],
      "hgvs": [
        "NC_000010.9:g.15630414A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176927,
          "referenceAllele": "T",
          "start": 176926
        }
      ],
      "hgvs": [
        "NG_034116.1:g.176927T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005751"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3031,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 3031,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "ENST00000378076.4:c.2880+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367316.3:n.2880+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752020",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378076.4:c.2880+46T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003638.3:c.2880+46T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367316.3:n.2880+46T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003629.2:n.2880+46T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3234,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 3234,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "ENST00000378076.3:c.2880+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367316.3:n.2880+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3399,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 3399,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "NM_001291494.1:c.2835+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278423.1:n.2835+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3444,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 3444,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "NM_003638.2:c.2880+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003629.2:n.2880+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3031,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 3031,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "NM_003638.3:c.2880+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003629.2:n.2880+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378076.4:c.2880+46T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003638.3:c.2880+46T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367316.3:n.2880+46T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003629.2:n.2880+46T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "endIntronDirection": "+",
          "endIntronOffset": 46,
          "referenceAllele": "T",
          "start": 2986,
          "startIntronDirection": "+",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006144",
      "geneNCBI_id": 8516,
      "geneSymbol": "ITGA8",
      "hgvs": [
        "NM_001291494.2:c.2835+46T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278423.1:n.2835+46T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716700"
    }
  ],
  "type": "nucleotide"
}