{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10528157",
  "communityStandardTitle": [
    "NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=729427[alleleid]",
        "alleleId": 729427,
        "preferredName": "NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/715352",
        "RCV": [
          "RCV000887806"
        ],
        "variationId": 715352
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-135741338-T-A",
        "id": "X-135741338-T-A",
        "variant": "X:135741338 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135741338T>A?assembly=hg19",
        "id": "chrX:g.135741338T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136659179T>A?assembly=hg38",
        "id": "chrX:g.136659179T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147340102",
        "rs": 147340102
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-135741338-T-A?dataset=gnomad_r2_1",
        "id": "X-135741338-T-A",
        "variant": "X:135741338 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136659179-T-A?dataset=gnomad_r3",
        "id": "X-136659179-T-A",
        "variant": "X:136659179 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136659179-T-A?dataset=gnomad_r4",
        "id": "X-136659179-T-A",
        "variant": "X:136659179 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 136659179,
          "referenceAllele": "T",
          "start": 136659178
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136659179T>A",
        "CM000685.2:g.136659179T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 135741338,
          "referenceAllele": "T",
          "start": 135741337
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135741338T>A",
        "CM000685.1:g.135741338T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 135569004,
          "referenceAllele": "T",
          "start": 135569003
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135569004T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16003,
          "referenceAllele": "T",
          "start": 16002
        }
      ],
      "hgvs": [
        "NG_007280.1:g.16003T>A",
        "LRG_141:g.16003T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695724.1:c.*168T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512122.1:n.*168T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "T",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695725.1:c.*105T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512123.1:n.*105T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2518,
          "referenceAllele": "T",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695726.1:n.2518T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "T",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695729.1:n.3353T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.7:c.550T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Ser184Thr",
        "hgvsWellDefined": "ENSP00000359663.2:p.Ser184Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.550T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.550T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Ser184Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Ser184Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370628.2:c.487T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359662.2:p.Ser163Thr",
        "hgvsWellDefined": "ENSP00000359662.2:p.Ser163Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "T",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.6:c.550T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Ser184Thr",
        "hgvsWellDefined": "ENSP00000359663.2:p.Ser184Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961555",
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.2:c.550T>A",
        "LRG_141t1:c.550T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Ser184Thr",
        "hgvsWellDefined": "NP_000065.1:p.Ser184Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961555",
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.3:c.550T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Ser184Thr",
        "hgvsWellDefined": "NP_000065.1:p.Ser184Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.550T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.550T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Ser184Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Ser184Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}