{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608703",
  "communityStandardTitle": [
    "NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378901[alleleid]",
        "alleleId": 378901,
        "preferredName": "NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/381652",
        "RCV": [
          "RCV000441734",
          "RCV000823370"
        ],
        "variationId": 381652
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135741228C>A?assembly=hg19",
        "id": "chrX:g.135741228C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136659069C>A?assembly=hg38",
        "id": "chrX:g.136659069C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521127",
        "rs": 1057521127
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 136659069,
          "referenceAllele": "C",
          "start": 136659068
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136659069C>A",
        "CM000685.2:g.136659069C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 135741228,
          "referenceAllele": "C",
          "start": 135741227
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135741228C>A",
        "CM000685.1:g.135741228C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 135568894,
          "referenceAllele": "C",
          "start": 135568893
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135568894C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15893,
          "referenceAllele": "C",
          "start": 15892
        }
      ],
      "hgvs": [
        "NG_007280.1:g.15893C>A",
        "LRG_141:g.15893C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695724.1:c.*58C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512122.1:n.*58C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695725.1:c.187C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512123.1:p.Pro63Thr",
        "hgvsWellDefined": "ENSP00000512123.1:p.Pro63Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2408,
          "referenceAllele": "C",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695726.1:n.2408C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3243,
          "referenceAllele": "C",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695729.1:n.3243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.7:c.440C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Thr147Asn",
        "hgvsWellDefined": "ENSP00000359663.2:p.Thr147Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.440C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.440C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Thr147Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Thr147Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370628.2:c.377C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359662.2:p.Thr126Asn",
        "hgvsWellDefined": "ENSP00000359662.2:p.Thr126Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.6:c.440C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Thr147Asn",
        "hgvsWellDefined": "ENSP00000359663.2:p.Thr147Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097109",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.2:c.440C>A",
        "LRG_141t1:c.440C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Thr147Asn",
        "hgvsWellDefined": "NP_000065.1:p.Thr147Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097109",
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.3:c.440C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Thr147Asn",
        "hgvsWellDefined": "NP_000065.1:p.Thr147Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.440C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.440C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Thr147Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Thr147Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}