{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10145297",
  "communityStandardTitle": [
    "NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649214[alleleid]",
        "alleleId": 649214,
        "preferredName": "NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/655998",
        "RCV": [
          "RCV000812293",
          "RCV002422795",
          "RCV003145171",
          "RCV003411792"
        ],
        "variationId": 655998
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-24109626-C-T",
        "id": "22-24109626-C-T",
        "variant": "22:24109626 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.24109626C>T?assembly=hg19",
        "id": "chr22:g.24109626C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.23767439C>T?assembly=hg38",
        "id": "chr22:g.23767439C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374211312",
        "rs": 374211312
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-24109626-C-T?dataset=gnomad_r2_1",
        "id": "22-24109626-C-T",
        "variant": "22:24109626 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-23767439-C-T?dataset=gnomad_r3",
        "id": "22-23767439-C-T",
        "variant": "22:23767439 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-23767439-C-T?dataset=gnomad_r4",
        "id": "22-23767439-C-T",
        "variant": "22:23767439 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 23767439,
          "referenceAllele": "C",
          "start": 23767438
        }
      ],
      "hgvs": [
        "NC_000022.11:g.23767439C>T",
        "CM000684.2:g.23767439C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 24109626,
          "referenceAllele": "C",
          "start": 24109625
        }
      ],
      "hgvs": [
        "NC_000022.10:g.24109626C>T",
        "CM000684.1:g.24109626C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 22439626,
          "referenceAllele": "C",
          "start": 22439625
        }
      ],
      "hgvs": [
        "NC_000022.9:g.22439626C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "hgvs": [
        "NG_034223.1:g.5534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "ENST00000484558.3:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418428.3:p.Gly66Ser",
        "hgvsWellDefined": "ENSP00000418428.3:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484558.3:c.196G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213720.3:c.196G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418428.3:p.Gly66Ser"
          },
          "RefSeq": {
            "hgvs": "NP_998885.1:p.Gly66Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "ENST00000401675.7:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384973.3:p.Gly66Ser",
        "hgvsWellDefined": "ENSP00000384973.3:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "ENST00000484558.2:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418428.2:p.Gly66Ser",
        "hgvsWellDefined": "ENSP00000418428.2:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "ENST00000517886.1:c.143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429976.1:p.Gly48Glu",
        "hgvsWellDefined": "ENSP00000429976.1:p.Gly48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43,
          "endIntronDirection": "+",
          "endIntronOffset": 395,
          "referenceAllele": "G",
          "start": 43,
          "startIntronDirection": "+",
          "startIntronOffset": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "ENST00000520222.1:c.41+395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430042.1:n.41+395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826873464",
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NM_001301339.1:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288268.1:p.Gly66Ser",
        "hgvsWellDefined": "NP_001288268.1:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076554",
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NM_213720.2:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998885.1:p.Gly66Ser",
        "hgvsWellDefined": "NP_998885.1:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NR_125755.1:n.241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139,
          "endIntronDirection": "+",
          "endIntronOffset": 395,
          "referenceAllele": "G",
          "start": 139,
          "startIntronDirection": "+",
          "startIntronOffset": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NR_125756.1:n.139+395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826873464",
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NM_001301339.2:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288268.1:p.Gly66Ser",
        "hgvsWellDefined": "NP_001288268.1:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076554",
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NM_213720.3:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_998885.1:p.Gly66Ser",
        "hgvsWellDefined": "NP_998885.1:p.Gly66Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484558.3:c.196G>A"
          },
          "RefSeq": {
            "hgvs": "NM_213720.3:c.196G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418428.3:p.Gly66Ser"
          },
          "RefSeq": {
            "hgvs": "NP_998885.1:p.Gly66Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NR_125755.2:n.241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139,
          "endIntronDirection": "+",
          "endIntronOffset": 395,
          "referenceAllele": "G",
          "start": 139,
          "startIntronDirection": "+",
          "startIntronOffset": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NR_125756.2:n.139+395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703257"
    }
  ],
  "type": "nucleotide"
}