{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1303151896",
  "communityStandardTitle": [
    "NM_022168.4(IFIH1):c.1009A= (p.Arg337=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777447",
        "rs": 587777447
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162288221,
          "referenceAllele": "T",
          "start": 162288220
        }
      ],
      "hgvs": [
        "NC_000002.12:g.162288221T=",
        "CM000664.2:g.162288221T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 163144731,
          "referenceAllele": "T",
          "start": 163144730
        }
      ],
      "hgvs": [
        "NC_000002.11:g.163144731T=",
        "CM000664.1:g.163144731T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162852977,
          "referenceAllele": "T",
          "start": 162852976
        }
      ],
      "hgvs": [
        "NC_000002.10:g.162852977T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35309,
          "referenceAllele": "A",
          "start": 35308
        }
      ],
      "hgvs": [
        "NG_011495.1:g.35309A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001763"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000697291.1:c.*606A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513228.1:n.*606A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "referenceAllele": "A",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000648433.1:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496816.1:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "A",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649554.1:n.619A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649979.2:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497271.1:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.1009A="
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.1009A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Arg337="
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Arg337="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "A",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000679938.1:c.697A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505518.1:p.Arg233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "A",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000263642.2:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263642.2:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066721902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "referenceAllele": "A",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.3:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "A",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "XM_011511628.1:c.292A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509930.1:p.Arg98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "A",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "XM_011511629.1:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509931.1:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066721902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.4:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.1009A="
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.1009A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Arg337="
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Arg337="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}