{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149743",
  "communityStandardTitle": [
    "NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27787[alleleid]",
        "alleleId": 27787,
        "preferredName": "NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12748",
        "RCV": [
          "RCV000083295"
        ],
        "variationId": 12748
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118210617-G-T",
        "id": "11-118210617-G-T",
        "variant": "11:118210617 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118210617G>T?assembly=hg19",
        "id": "chr11:g.118210617G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118339902G>T?assembly=hg38",
        "id": "chr11:g.118339902G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033581",
        "rs": 111033581
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118210617-G-T?dataset=gnomad_r2_1",
        "id": "11-118210617-G-T",
        "variant": "11:118210617 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118339902-G-T?dataset=gnomad_r3",
        "id": "11-118339902-G-T",
        "variant": "11:118339902 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118339902-G-T?dataset=gnomad_r4",
        "id": "11-118339902-G-T",
        "variant": "11:118339902 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118339902,
          "referenceAllele": "G",
          "start": 118339901
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118339902G>T",
        "CM000673.2:g.118339902G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118210617,
          "referenceAllele": "G",
          "start": 118210616
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118210617G>T",
        "CM000673.1:g.118210617G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 117715827,
          "referenceAllele": "G",
          "start": 117715826
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117715827G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "hgvs": [
        "NG_007566.1:g.559G>T",
        "LRG_39:g.559G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7843,
          "referenceAllele": "C",
          "start": 7842
        }
      ],
      "hgvs": [
        "NG_009891.1:g.7843C>A",
        "LRG_37:g.7843C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695666.1:n.766C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695667.1:n.284C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2264,
          "referenceAllele": "C",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000695668.1:n.2264C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000300692.9:c.279C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300692.4:p.Cys93Ter",
        "hgvsWellDefined": "ENSP00000300692.4:p.Cys93_Lys171delinsGlnSerCysValGluLeuAspProAlaThrValAlaGlyIleIleValThrAspValIleAlaThrLeuLeuLeuAlaLeuGlyValPheCysPheAlaGlyHisGluThrGlyArgLeuSerGlyAlaAlaAspThrGlnAlaLeuLeuArgAsnAspGlnValTyrGlnProLeuArgAspArgAspAspAlaGlnTyrSerHisLeuGlyGlyAsnTrpAlaArgAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300692.9:c.279C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000732.6:c.279C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300692.4:p.Cys93Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000723.1:p.Cys93Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000300692.8:c.279C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300692.4:p.Cys93Ter",
        "hgvsWellDefined": "ENSP00000300692.4:p.Cys93_Lys171delinsGlnSerCysValGluLeuAspProAlaThrValAlaGlyIleIleValThrAspValIleAlaThrLeuLeuLeuAlaLeuGlyValPheCysPheAlaGlyHisGluThrGlyArgLeuSerGlyAlaAlaAspThrGlnAlaLeuLeuArgAsnAspGlnValTyrGlnProLeuArgAspArgAspAspAlaGlnTyrSerHisLeuGlyGlyAsnTrpAlaArgAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "endIntronDirection": "-",
          "endIntronOffset": 407,
          "referenceAllele": "C",
          "start": 298,
          "startIntronDirection": "-",
          "startIntronOffset": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000392884.2:c.275-408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376622.2:n.275-408C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 407,
          "referenceAllele": "C",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000526561.1:n.80-408C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000529594.5:c.60C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437335.1:p.Cys20Ter",
        "hgvsWellDefined": "ENSP00000437335.1:p.Cys20_Lys98delinsGlnSerCysValGluLeuAspProAlaThrValAlaGlyIleIleValThrAspValIleAlaThrLeuLeuLeuAlaLeuGlyValPheCysPheAlaGlyHisGluThrGlyArgLeuSerGlyAlaAlaAspThrGlnAlaLeuLeuArgAsnAspGlnValTyrGlnProLeuArgAspArgAspAspAlaGlnTyrSerHisLeuGlyGlyAsnTrpAlaArgAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 407,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "ENST00000534687.5:c.288-408C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA149745",
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_000732.4:c.279C>A",
        "LRG_37t1:c.279C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000723.1:p.Cys93Ter",
        "hgvsWellDefined": "NP_000723.1:p.Cys93_Lys171delinsGlnSerCysValGluLeuAspProAlaThrValAlaGlyIleIleValThrAspValIleAlaThrLeuLeuLeuAlaLeuGlyValPheCysPheAlaGlyHisGluThrGlyArgLeuSerGlyAlaAlaAspThrGlnAlaLeuLeuArgAsnAspGlnValTyrGlnProLeuArgAspArgAspAspAlaGlnTyrSerHisLeuGlyGlyAsnTrpAlaArgAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "-",
          "endIntronOffset": 407,
          "referenceAllele": "C",
          "start": 411,
          "startIntronDirection": "-",
          "startIntronOffset": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_001040651.1:c.275-408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035741.1:n.275-408C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 407,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_001040651.2:c.275-408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035741.1:n.275-408C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA149745",
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001673",
      "geneNCBI_id": 915,
      "geneSymbol": "CD3D",
      "hgvs": [
        "NM_000732.6:c.279C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000723.1:p.Cys93Ter",
        "hgvsWellDefined": "NP_000723.1:p.Cys93_Lys171delinsGlnSerCysValGluLeuAspProAlaThrValAlaGlyIleIleValThrAspValIleAlaThrLeuLeuLeuAlaLeuGlyValPheCysPheAlaGlyHisGluThrGlyArgLeuSerGlyAlaAlaAspThrGlnAlaLeuLeuArgAsnAspGlnValTyrGlnProLeuArgAspArgAspAspAlaGlnTyrSerHisLeuGlyGlyAsnTrpAlaArgAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300692.9:c.279C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000732.6:c.279C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300692.4:p.Cys93Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000723.1:p.Cys93Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}