{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA219213",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79121[alleleid]",
        "alleleId": 79121,
        "preferredName": "NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68230",
        "RCV": [
          "RCV000059064",
          "RCV003329239"
        ],
        "variationId": 68230
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45705975T>C?assembly=hg19",
        "id": "chr21:g.45705975T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.44286092T>C?assembly=hg38",
        "id": "chr21:g.44286092T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/179363879",
        "rs": 179363879
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44286092-T-C?dataset=gnomad_r4",
        "id": "21-44286092-T-C",
        "variant": "21:44286092 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 44286092,
          "referenceAllele": "T",
          "start": 44286091
        }
      ],
      "hgvs": [
        "NC_000021.9:g.44286092T>C",
        "CM000683.2:g.44286092T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 45705975,
          "referenceAllele": "T",
          "start": 45705974
        }
      ],
      "hgvs": [
        "NC_000021.8:g.45705975T>C",
        "CM000683.1:g.45705975T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 44530403,
          "referenceAllele": "T",
          "start": 44530402
        }
      ],
      "hgvs": [
        "NC_000021.7:g.44530403T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5213,
          "referenceAllele": "T",
          "start": 5212
        }
      ],
      "hgvs": [
        "NG_009556.1:g.5213T>C",
        "LRG_18:g.5213T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "referenceAllele": "T",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000291582.6:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291582.5:p.Leu29Pro",
        "hgvsWellDefined": "ENSP00000291582.5:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.86T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.86T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Leu29Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Leu29Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "T",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000291582.5:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291582.5:p.Leu29Pro",
        "hgvsWellDefined": "ENSP00000291582.5:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "T",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000527919.5:n.247T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "T",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000530812.5:n.255T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102836",
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "T",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.3:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000374.1:p.Leu29Pro",
        "hgvsWellDefined": "NP_000374.1:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "T",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "XM_011529551.1:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527853.1:p.Leu29Pro",
        "hgvsWellDefined": "XP_011527853.1:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102836",
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "referenceAllele": "T",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.4:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000374.1:p.Leu29Pro",
        "hgvsWellDefined": "NP_000374.1:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.86T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.86T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Leu29Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Leu29Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}