{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200833476",
  "communityStandardTitle": [
    "NM_003172.4(SURF1):c.226T>C (p.Leu76=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901330[alleleid]",
        "alleleId": 901330,
        "preferredName": "NM_003172.4(SURF1):c.226T>C (p.Leu76=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/914560",
        "RCV": [
          "RCV001168782"
        ],
        "variationId": 914560
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133354838A>G?assembly=hg38",
        "id": "chr9:g.133354838A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782036327",
        "rs": 782036327
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2130019043",
        "rs": 2130019043
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133354838-A-G?dataset=gnomad_r4",
        "id": "9-133354838-A-G",
        "variant": "9:133354838 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133354838,
          "referenceAllele": "A",
          "start": 133354837
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133354838A>G",
        "CM000671.2:g.133354838A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135211514,
          "referenceAllele": "A",
          "start": 135211513
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135211514A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6669,
          "referenceAllele": "T",
          "start": 6668
        }
      ],
      "hgvs": [
        "NG_008477.1:g.6669T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "T",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.8:c.226T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750904",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.226T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.226T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Leu76="
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Leu76="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000371974.7:c.226T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361042.3:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000437995.1:n.172T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "T",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "ENST00000615505.4:c.-102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482067.1:n.-102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "T",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_001280787.1:c.-102T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001267716.1:n.-102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829421400",
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.3:c.226T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "XM_011518942.1:c.-102T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517244.1:n.-102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829421400",
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "T",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NM_003172.4:c.226T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003163.1:p.Leu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371974.8:c.226T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003172.4:c.226T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361042.3:p.Leu76="
          },
          "RefSeq": {
            "hgvs": "NP_003163.1:p.Leu76="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}