{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA185942",
  "communityStandardTitle": [
    "NM_000732.6(CD3D):c.274+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178842[alleleid]",
        "alleleId": 178842,
        "preferredName": "NM_000732.6(CD3D):c.274+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180674",
        "RCV": [
          "RCV000157634",
          "RCV003398816"
        ],
        "variationId": 180674
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118211085-C-T",
        "id": "11-118211085-C-T",
        "variant": "11:118211085 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118211085C>T?assembly=hg19",
        "id": "chr11:g.118211085C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118340370C>T?assembly=hg38",
        "id": "chr11:g.118340370C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880296",
        "rs": 730880296
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118211085-C-T?dataset=gnomad_r2_1",
        "id": "11-118211085-C-T",
        "variant": "11:118211085 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118340370-C-T?dataset=gnomad_r4",
        "id": "11-118340370-C-T",
        "variant": "11:118340370 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118340370,
          "referenceAllele": "C",
          "start": 118340369
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118340370C>T",
        "CM000673.2:g.118340370C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118211085,
          "referenceAllele": "C",
          "start": 118211084
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118211085C>T",
        "CM000673.1:g.118211085C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 117716295,
          "referenceAllele": "C",
          "start": 117716294
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117716295C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "hgvs": [
        "NG_007566.1:g.1027C>T",
        "LRG_39:g.1027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7375,
          "referenceAllele": "G",
          "start": 7374
        }
      ],
      "hgvs": [
        "NG_009891.1:g.7375G>A",
        "LRG_37:g.7375G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695666.1:n.298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695667.1:n.279+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2259,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2259,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695668.1:n.2259+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000300692.9:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300692.4:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300692.9:c.274+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000732.6:c.274+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300692.4:n.274+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000723.1:n.274+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000300692.8:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300692.4:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 298,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000392884.2:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376622.2:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 875,
          "referenceAllele": "G",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000526561.1:n.80-876G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 463,
          "referenceAllele": "G",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000529594.5:c.56-464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437335.1:n.56-464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000534687.5:c.287+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_000732.4:c.274+5G>A",
        "LRG_37t1:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000723.1:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_001040651.1:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035741.1:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_001040651.2:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035741.1:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_000732.6:c.274+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000723.1:n.274+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300692.9:c.274+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000732.6:c.274+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300692.4:n.274+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000723.1:n.274+5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}