{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255754",
  "communityStandardTitle": [
    "NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26203[alleleid]",
        "alleleId": 26203,
        "preferredName": "NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11164",
        "RCV": [
          "RCV000011914",
          "RCV000256172"
        ],
        "variationId": 11164
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135741206T>G?assembly=hg19",
        "id": "chrX:g.135741206T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136659047T>G?assembly=hg38",
        "id": "chrX:g.136659047T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894777",
        "rs": 104894777
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 136659047,
          "referenceAllele": "T",
          "start": 136659046
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136659047T>G",
        "CM000685.2:g.136659047T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 135741206,
          "referenceAllele": "T",
          "start": 135741205
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135741206T>G",
        "CM000685.1:g.135741206T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 135568872,
          "referenceAllele": "T",
          "start": 135568871
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135568872T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15871,
          "referenceAllele": "T",
          "start": 15870
        }
      ],
      "hgvs": [
        "NG_007280.1:g.15871T>G",
        "LRG_141:g.15871T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "T",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695724.1:c.*36T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512122.1:n.*36T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695725.1:c.165T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512123.1:p.Ser55Arg",
        "hgvsWellDefined": "ENSP00000512123.1:p.Ser55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "T",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695726.1:n.2386T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3221,
          "referenceAllele": "T",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695729.1:n.3221T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.7:c.418T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Trp140Gly",
        "hgvsWellDefined": "ENSP00000359663.2:p.Trp140Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.418T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.418T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Trp140Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Trp140Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 377,
          "referenceAllele": "T",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370628.2:c.355T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359662.2:p.Trp119Gly",
        "hgvsWellDefined": "ENSP00000359662.2:p.Trp119Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.6:c.418T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Trp140Gly",
        "hgvsWellDefined": "ENSP00000359663.2:p.Trp140Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097169",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.2:c.418T>G",
        "LRG_141t1:c.418T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Trp140Gly",
        "hgvsWellDefined": "NP_000065.1:p.Trp140Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097169",
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.3:c.418T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Trp140Gly",
        "hgvsWellDefined": "NP_000065.1:p.Trp140Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.418T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.418T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Trp140Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Trp140Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}