{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139980528",
  "communityStandardTitle": [
    "NM_198551.4(MIA3):c.3169+315G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3008621",
        "rs": 3008621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 222630704,
          "referenceAllele": "G",
          "start": 222630703
        }
      ],
      "hgvs": [
        "NC_000001.11:g.222630704G=",
        "CM000663.2:g.222630704G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 222804046,
          "referenceAllele": "G",
          "start": 222804045
        }
      ],
      "hgvs": [
        "NC_000001.10:g.222804046G=",
        "CM000663.1:g.222804046G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 220870669,
          "referenceAllele": "G",
          "start": 220870668
        }
      ],
      "hgvs": [
        "NC_000001.9:g.220870669G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3183,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "ENST00000344922.10:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340900.5:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748263",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344922.10:c.3169+315G="
          },
          "RefSeq": {
            "hgvs": "NM_198551.4:c.3169+315G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340900.5:n.3169+315G="
          },
          "RefSeq": {
            "hgvs": "NP_940953.2:n.3169+315G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "endIntronDirection": "+",
          "endIntronOffset": 2010,
          "referenceAllele": "G",
          "start": 1477,
          "startIntronDirection": "+",
          "startIntronOffset": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "ENST00000344507.1:c.1474+2010G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341348.1:n.1474+2010G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3194,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3194,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "ENST00000344922.9:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340900.5:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 1916,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "ENST00000354906.7:c.1916+315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS263274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3181,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "ENST00000470521.1:n.3181+315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_198551.3:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940953.2:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_005273121.3:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273178.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_006711304.2:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711367.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_011509513.1:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507815.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324062.1:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310991.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324063.1:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310992.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3223,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3223,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324064.1:c.2677+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310993.1:n.2677+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_006711304.4:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711367.3:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_011509513.3:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507815.3:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3003,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3003,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "XM_017001243.2:c.2677+315G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856732.1:n.2677+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3183,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_198551.4:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940953.2:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344922.10:c.3169+315G="
          },
          "RefSeq": {
            "hgvs": "NM_198551.4:c.3169+315G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340900.5:n.3169+315G="
          },
          "RefSeq": {
            "hgvs": "NP_940953.2:n.3169+315G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3183,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324062.2:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310991.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3183,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3183,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324063.2:c.3169+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310992.1:n.3169+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "G",
          "start": 3228,
          "startIntronDirection": "+",
          "startIntronOffset": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024008",
      "geneNCBI_id": 375056,
      "geneSymbol": "MIA3",
      "hgvs": [
        "NM_001324064.2:c.2677+315G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310993.1:n.2677+315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718398"
    }
  ],
  "type": "nucleotide"
}