{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16611812",
  "communityStandardTitle": [
    "NM_004168.4(SDHA):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394857[alleleid]",
        "alleleId": 394857,
        "preferredName": "NM_004168.4(SDHA):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/412398",
        "RCV": [
          "RCV000462474",
          "RCV000662887",
          "RCV001017951"
        ],
        "variationId": 412398
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.218472T>C?assembly=hg19",
        "id": "chr5:g.218472T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.218357T>C?assembly=hg38",
        "id": "chr5:g.218357T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750380279",
        "rs": 750380279
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-218472-T-C?dataset=gnomad_r2_1",
        "id": "5-218472-T-C",
        "variant": "5:218472 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-218357-T-C?dataset=gnomad_r4",
        "id": "5-218357-T-C",
        "variant": "5:218357 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 218357,
          "referenceAllele": "T",
          "start": 218356
        }
      ],
      "hgvs": [
        "NC_000005.10:g.218357T>C",
        "CM000667.2:g.218357T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 218472,
          "referenceAllele": "T",
          "start": 218471
        }
      ],
      "hgvs": [
        "NC_000005.9:g.218472T>C",
        "CM000667.1:g.218472T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 271472,
          "referenceAllele": "T",
          "start": 271471
        }
      ],
      "hgvs": [
        "NC_000005.8:g.271472T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5117,
          "referenceAllele": "T",
          "start": 5116
        }
      ],
      "hgvs": [
        "NG_012339.1:g.5117T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4826,
          "referenceAllele": "A",
          "start": 4825
        }
      ],
      "hgvs": [
        "NG_033064.1:g.4826A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.11:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000264932.6:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "T",
          "start": 59
        }
      ],
      "hgvs": [
        "ENST00000651543.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499215.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000499215.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "T",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.10:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000264932.6:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "referenceAllele": "T",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000502379.5:n.47T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 55,
          "referenceAllele": "T",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504309.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426514.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000426514.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000505555.5:n.42T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31,
          "referenceAllele": "T",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000509632.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425077.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000425077.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40,
          "referenceAllele": "T",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000510361.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427703.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000427703.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "T",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000617470.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484230.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000484230.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837749",
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001281261.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397721",
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Met1Thr",
        "hgvsWellDefined": "NP_004159.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_005248331.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248388.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005248388.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011512374.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011512375.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_925638.1:n.135T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827347173",
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001317687.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "T",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011512374.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "T",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Met1Thr",
        "hgvsWellDefined": "XP_011512375.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "T",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_017009685.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865174.1:p.Met1Thr",
        "hgvsWellDefined": "XP_016865174.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "referenceAllele": "T",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_024446143.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301911.1:p.Met1Thr",
        "hgvsWellDefined": "XP_024301911.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "T",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_002956167.1:n.49T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397721",
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Met1Thr",
        "hgvsWellDefined": "NP_004159.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Met1Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837749",
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001281261.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827347173",
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001317687.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718763"
    }
  ],
  "type": "nucleotide"
}