{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10528066",
  "communityStandardTitle": [
    "NM_000074.3(CD40LG):c.38C>T (p.Ala13Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3231680",
        "active": true,
        "id": "COSM3231680"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271617[alleleid]",
        "alleleId": 271617,
        "preferredName": "NM_000074.3(CD40LG):c.38C>T (p.Ala13Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287380",
        "RCV": [
          "RCV000339805",
          "RCV000726000",
          "RCV001089061"
        ],
        "variationId": 287380
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-135730445-C-T",
        "id": "X-135730445-C-T",
        "variant": "X:135730445 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135730445C>T?assembly=hg19",
        "id": "chrX:g.135730445C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136648286C>T?assembly=hg38",
        "id": "chrX:g.136648286C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368003929",
        "rs": 368003929
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-135730445-C-T?dataset=gnomad_r2_1",
        "id": "X-135730445-C-T",
        "variant": "X:135730445 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136648286-C-T?dataset=gnomad_r3",
        "id": "X-136648286-C-T",
        "variant": "X:136648286 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136648286-C-T?dataset=gnomad_r4",
        "id": "X-136648286-C-T",
        "variant": "X:136648286 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 136648286,
          "referenceAllele": "C",
          "start": 136648285
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136648286C>T",
        "CM000685.2:g.136648286C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 135730445,
          "referenceAllele": "C",
          "start": 135730444
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135730445C>T",
        "CM000685.1:g.135730445C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 135558111,
          "referenceAllele": "C",
          "start": 135558110
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135558111C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "hgvs": [
        "NG_007280.1:g.5110C>T",
        "LRG_141:g.5110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "referenceAllele": "C",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695724.1:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512122.1:p.Ala13Val",
        "hgvsWellDefined": "ENSP00000512122.1:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695725.1:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512123.1:p.Ala13Val",
        "hgvsWellDefined": "ENSP00000512123.1:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695726.1:n.81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25,
          "referenceAllele": "C",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695727.1:n.25C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25,
          "referenceAllele": "C",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000695728.1:n.25C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.7:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Ala13Val",
        "hgvsWellDefined": "ENSP00000359663.2:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750650",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.38C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.38C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Ala13Val"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Ala13Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370628.2:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359662.2:p.Ala13Val",
        "hgvsWellDefined": "ENSP00000359662.2:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "ENST00000370629.6:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359663.2:p.Ala13Val",
        "hgvsWellDefined": "ENSP00000359663.2:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459722",
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.2:c.38C>T",
        "LRG_141t1:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Ala13Val",
        "hgvsWellDefined": "NP_000065.1:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459722",
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NM_000074.3:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000065.1:p.Ala13Val",
        "hgvsWellDefined": "NP_000065.1:p.Ala13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370629.7:c.38C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000074.3:c.38C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359663.2:p.Ala13Val"
          },
          "RefSeq": {
            "hgvs": "NP_000065.1:p.Ala13Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}