{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412407849",
  "communityStandardTitle": [
    "NM_016562.4(TLR7):c.1521T>A (p.Phe507Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.12905148T>A?assembly=hg19",
        "id": "chrX:g.12905148T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.12887029T>A?assembly=hg38",
        "id": "chrX:g.12887029T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 12887029,
          "referenceAllele": "T",
          "start": 12887028
        }
      ],
      "hgvs": [
        "NC_000023.11:g.12887029T>A",
        "CM000685.2:g.12887029T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 12905148,
          "referenceAllele": "T",
          "start": 12905147
        }
      ],
      "hgvs": [
        "NC_000023.10:g.12905148T>A",
        "CM000685.1:g.12905148T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 12815069,
          "referenceAllele": "T",
          "start": 12815068
        }
      ],
      "hgvs": [
        "NC_000023.9:g.12815069T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24947,
          "referenceAllele": "T",
          "start": 24946
        }
      ],
      "hgvs": [
        "NG_012569.1:g.24947T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002469"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "T",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015631",
      "geneNCBI_id": 51284,
      "geneSymbol": "TLR7",
      "hgvs": [
        "ENST00000380659.4:c.1521T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370034.3:p.Phe507Leu",
        "hgvsWellDefined": "ENSP00000370034.3:p.Phe507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380659.4:c.1521T>A"
          },
          "RefSeq": {
            "hgvs": "NM_016562.4:c.1521T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370034.3:p.Phe507Leu"
          },
          "RefSeq": {
            "hgvs": "NP_057646.1:p.Phe507Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015631",
      "geneNCBI_id": 51284,
      "geneSymbol": "TLR7",
      "hgvs": [
        "ENST00000380659.3:c.1521T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370034.3:p.Phe507Leu",
        "hgvsWellDefined": "ENSP00000370034.3:p.Phe507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573267751",
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015631",
      "geneNCBI_id": 51284,
      "geneSymbol": "TLR7",
      "hgvs": [
        "NM_016562.3:c.1521T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057646.1:p.Phe507Leu",
        "hgvsWellDefined": "NP_057646.1:p.Phe507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034787"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573267751",
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "T",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015631",
      "geneNCBI_id": 51284,
      "geneSymbol": "TLR7",
      "hgvs": [
        "NM_016562.4:c.1521T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057646.1:p.Phe507Leu",
        "hgvsWellDefined": "NP_057646.1:p.Phe507Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380659.4:c.1521T>A"
          },
          "RefSeq": {
            "hgvs": "NM_016562.4:c.1521T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370034.3:p.Phe507Leu"
          },
          "RefSeq": {
            "hgvs": "NP_057646.1:p.Phe507Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}