{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375694143",
  "communityStandardTitle": [
    "NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622891[alleleid]",
        "alleleId": 622891,
        "preferredName": "NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635073",
        "RCV": [
          "RCV000785948"
        ],
        "variationId": 635073
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133353760G>T?assembly=hg38",
        "id": "chr9:g.133353760G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1564349087",
        "rs": 1564349087
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133353760,
          "referenceAllele": "G",
          "start": 133353759
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133353760G>T",
        "CM000671.2:g.133353760G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135210436,
          "referenceAllele": "G",
          "start": 135210435
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135210436G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7747,
          "referenceAllele": "C",
          "start": 7746
        }
      ],
      "hgvs": [
        "NG_008477.1:g.7747C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "C",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.8:c.504C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Cys168Ter",
        "hgvsWellDefined": "ENSP00000361042.3:p.Cys168_Val300delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750904",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.504C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.504C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Cys168Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Cys168Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.7:c.504C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Cys168Ter",
        "hgvsWellDefined": "ENSP00000361042.3:p.Cys168_Val300delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000437995.1:n.450C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000495952.5:n.494C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000615505.4:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482067.1:p.Cys59Ter",
        "hgvsWellDefined": "ENSP00000482067.1:p.Cys59_Val191delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010713",
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_001280787.1:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001267716.1:p.Cys59Ter",
        "hgvsWellDefined": "NP_001267716.1:p.Cys59_Val191delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195351",
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.3:c.504C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Cys168Ter",
        "hgvsWellDefined": "NP_003163.1:p.Cys168_Val300delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "XM_011518942.1:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517244.1:p.Cys59Ter",
        "hgvsWellDefined": "XP_011517244.1:p.Cys59_Val191delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195351",
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "C",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.4:c.504C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Cys168Ter",
        "hgvsWellDefined": "NP_003163.1:p.Cys168_Val300delinsThrAspLeuGlyValThrIleLeuValAsnArgGlyPheValProArgLysLysValAsnProGluThrArgGlnLysGlyGlnIleGluGlyGluValAspLeuIleGlyMetValArgLeuThrGluThrArgGlnProPheValProGluAsnAsnProGluArgAsnHisTrpHisTyrArgAspLeuGluAlaMetAlaArgIleThrGlyAlaGluProIlePheIleAspAlaAsnPheGlnSerThrValProGlyGlyProIleGlyGlyGlnThrArgValThrLeuArgAsnGluHisLeuGlnTyrIleValThrTrpTyrGlyLeuSerAlaAlaThrSerTyrLeuTrpPheLysLysPheLeuArgGlyThrProGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.504C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.504C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Cys168Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Cys168Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}