{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414755781",
  "communityStandardTitle": [
    "NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849681[alleleid]",
        "alleleId": 849681,
        "preferredName": "NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/855047",
        "RCV": [
          "RCV001060218"
        ],
        "variationId": 855047
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135741302T>C?assembly=hg19",
        "id": "chrX:g.135741302T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136659143T>C?assembly=hg38",
        "id": "chrX:g.136659143T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2076127133",
        "rs": 2076127133
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 136659143,
          "referenceAllele": "T",
          "start": 136659142
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136659143T>C",
        "CM000685.2:g.136659143T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 135741302,
          "referenceAllele": "T",
          "start": 135741301
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135741302T>C",
        "CM000685.1:g.135741302T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 135568968,
          "referenceAllele": "T",
          "start": 135568967
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135568968T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15967,
          "referenceAllele": "T",
          "start": 15966
        }
      ],
      "hgvs": [
        "NG_007280.1:g.15967T>C",
        "LRG_141:g.15967T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695724.1:c.*132T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512122.1:n.*132T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695725.1:c.*69T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512123.1:n.*69T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2482,
          "referenceAllele": "T",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695726.1:n.2482T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "T",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695729.1:n.3317T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "T",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.7:c.514T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Tyr172His",
        "hgvsWellDefined": "ENSP00000359663.2:p.Tyr172His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.514T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.514T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Tyr172His"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Tyr172His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370628.2:c.451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359662.2:p.Tyr151His",
        "hgvsWellDefined": "ENSP00000359662.2:p.Tyr151His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.6:c.514T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Tyr172His",
        "hgvsWellDefined": "ENSP00000359663.2:p.Tyr172His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687917",
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.2:c.514T>C",
        "LRG_141t1:c.514T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Tyr172His",
        "hgvsWellDefined": "NP_000065.1:p.Tyr172His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687917",
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "T",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.3:c.514T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Tyr172His",
        "hgvsWellDefined": "NP_000065.1:p.Tyr172His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.514T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.514T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Tyr172His"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Tyr172His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}