{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1623461752",
  "communityStandardTitle": [
    "NM_018965.4(TREM2):c.113A= (p.Tyr38=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044603",
        "rs": 797044603
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 41161541,
          "referenceAllele": "T",
          "start": 41161540
        }
      ],
      "hgvs": [
        "NC_000006.12:g.41161541T=",
        "CM000668.2:g.41161541T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 41129279,
          "referenceAllele": "T",
          "start": 41129278
        }
      ],
      "hgvs": [
        "NC_000006.11:g.41129279T=",
        "CM000668.1:g.41129279T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 41237257,
          "referenceAllele": "T",
          "start": 41237256
        }
      ],
      "hgvs": [
        "NC_000006.10:g.41237257T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6644,
          "referenceAllele": "A",
          "start": 6643
        }
      ],
      "hgvs": [
        "NG_011561.1:g.6644A=",
        "LRG_631:g.6644A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001821"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "A",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.8:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.113A="
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.113A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Tyr38="
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Tyr38="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "A",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000338469.3:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342651.4:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "A",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.7:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373122.8:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362214.4:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "A",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.1:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072349885",
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "A",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.3:c.113A=",
        "LRG_631t1:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 1502,
          "referenceAllele": "A",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "XM_006715116.2:c.130+1502A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715179.1:n.130+1502A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 5978,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 5977
        }
      ],
      "hgvs": [
        "XR_926795.1:n.222+5978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 5978,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 5977
        }
      ],
      "hgvs": [
        "XR_926796.1:n.214+5978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 5978,
          "referenceAllele": "T",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 5977
        }
      ],
      "hgvs": [
        "XR_926797.1:n.188+5978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 5978,
          "referenceAllele": "T",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 5977
        }
      ],
      "hgvs": [
        "XR_926795.2:n.517+5978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 5978,
          "referenceAllele": "T",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 5977
        }
      ],
      "hgvs": [
        "XR_926797.2:n.232+5978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "A",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.2:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072349885",
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "A",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.4:c.113A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Tyr38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.113A="
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.113A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Tyr38="
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Tyr38="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}