{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9043014",
  "communityStandardTitle": [
    "NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=349419[alleleid]",
        "alleleId": 349419,
        "preferredName": "NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328336",
        "RCV": [
          "RCV000287249",
          "RCV000400936",
          "RCV003556343"
        ],
        "variationId": 328336
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1387814-T-C",
        "id": "19-1387814-T-C",
        "variant": "19:1387814 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1387814T>C?assembly=hg19",
        "id": "chr19:g.1387814T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1387815T>C?assembly=hg38",
        "id": "chr19:g.1387815T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201222388",
        "rs": 201222388
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1387814-T-C?dataset=gnomad_r2_1",
        "id": "19-1387814-T-C",
        "variant": "19:1387814 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1387815-T-C?dataset=gnomad_r3",
        "id": "19-1387815-T-C",
        "variant": "19:1387815 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1387815-T-C?dataset=gnomad_r4",
        "id": "19-1387815-T-C",
        "variant": "19:1387815 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1387815,
          "referenceAllele": "T",
          "start": 1387814
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1387815T>C",
        "CM000681.2:g.1387815T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1387814,
          "referenceAllele": "T",
          "start": 1387813
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1387814T>C",
        "CM000681.1:g.1387814T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1338814,
          "referenceAllele": "T",
          "start": 1338813
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1338814T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8932,
          "referenceAllele": "T",
          "start": 8931
        }
      ],
      "hgvs": [
        "NG_008283.1:g.8932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000997"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000233627.14:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233627.9:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233627.14:c.21T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024407.5:c.21T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233627.9:p.Pro7="
          },
          "RefSeq": {
            "hgvs": "NP_077718.3:p.Pro7="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000233627.13:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233627.9:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "T",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000313408.11:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364262.5:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26,
          "referenceAllele": "T",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000414651.3:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406630.2:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "T",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000436115.6:n.44T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36,
          "referenceAllele": "T",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000534853.5:c.16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442822.1:p.Trp6Arg",
        "hgvsWellDefined": "ENSP00000442822.1:p.Trp6Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "referenceAllele": "T",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000538523.5:n.77T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "T",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000538662.5:n.48T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "T",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000538929.5:n.111T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "T",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000539480.5:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443273.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12,
          "referenceAllele": "T",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000540530.5:n.12T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000543289.5:n.272T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000545446.5:n.73T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000546172.7:c.*17T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467094.1:n.*17T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "T",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000546283.5:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440348.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000618074.4:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477895.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "referenceAllele": "T",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000620479.4:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480984.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "T",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "ENST00000622587.4:n.17T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829993699",
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "NM_024407.4:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077718.3:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "T",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "XM_005259556.3:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259613.2:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828099409",
      "coordinates": [
        {
          "allele": "C",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "NM_001363602.1:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350531.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "T",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "XM_017026768.2:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882257.2:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829993699",
      "coordinates": [
        {
          "allele": "C",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "NM_024407.5:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077718.3:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670642",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233627.14:c.21T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024407.5:c.21T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233627.9:p.Pro7="
          },
          "RefSeq": {
            "hgvs": "NP_077718.3:p.Pro7="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828099409",
      "coordinates": [
        {
          "allele": "C",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "NM_001363602.2:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350531.1:p.Pro7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690708"
    }
  ],
  "type": "nucleotide"
}