{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358571",
  "communityStandardTitle": [
    "NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226821[alleleid]",
        "alleleId": 226821,
        "preferredName": "NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224952",
        "RCV": [
          "RCV000216190",
          "RCV000224380",
          "RCV000282383",
          "RCV000349064",
          "RCV000374489",
          "RCV000411625",
          "RCV000573807",
          "RCV001080211"
        ],
        "variationId": 224952
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-218487-G-A",
        "id": "5-218487-G-A",
        "variant": "5:218487 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.218487G>A?assembly=hg19",
        "id": "chr5:g.218487G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.218372G>A?assembly=hg38",
        "id": "chr5:g.218372G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/187964306",
        "rs": 187964306
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-218487-G-A?dataset=gnomad_r2_1",
        "id": "5-218487-G-A",
        "variant": "5:218487 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-218372-G-A?dataset=gnomad_r3",
        "id": "5-218372-G-A",
        "variant": "5:218372 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-218372-G-A?dataset=gnomad_r4",
        "id": "5-218372-G-A",
        "variant": "5:218372 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 218372,
          "referenceAllele": "G",
          "start": 218371
        }
      ],
      "hgvs": [
        "NC_000005.10:g.218372G>A",
        "CM000667.2:g.218372G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 218487,
          "referenceAllele": "G",
          "start": 218486
        }
      ],
      "hgvs": [
        "NC_000005.9:g.218487G>A",
        "CM000667.1:g.218487G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 271487,
          "referenceAllele": "G",
          "start": 271486
        }
      ],
      "hgvs": [
        "NC_000005.8:g.271487G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5132,
          "referenceAllele": "G",
          "start": 5131
        }
      ],
      "hgvs": [
        "NG_012339.1:g.5132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4811,
          "referenceAllele": "C",
          "start": 4810
        }
      ],
      "hgvs": [
        "NG_033064.1:g.4811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.11:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000264932.6:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.17G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.17G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Gly6Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Gly6Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "hgvs": [
        "ENST00000651543.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499215.1:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000499215.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.10:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000264932.6:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62,
          "referenceAllele": "G",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000502379.5:n.62G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504309.5:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426514.1:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000426514.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504824.5:n.2G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000505555.5:n.57G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000509632.5:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425077.1:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000425077.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55,
          "referenceAllele": "G",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000510361.5:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427703.1:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000427703.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000617470.4:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484230.1:p.Gly6Asp",
        "hgvsWellDefined": "ENSP00000484230.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837776",
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Gly6Asp",
        "hgvsWellDefined": "NP_001281261.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358572",
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.3:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Gly6Asp",
        "hgvsWellDefined": "NP_004159.2:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_005248331.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248388.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_005248388.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_011512374.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_011512375.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_925638.1:n.150G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827347199",
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Gly6Asp",
        "hgvsWellDefined": "NP_001317687.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_011512374.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_011512375.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_017009685.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865174.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_016865174.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62,
          "referenceAllele": "G",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_024446143.1:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301911.1:p.Gly6Asp",
        "hgvsWellDefined": "XP_024301911.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_002956167.1:n.64G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358572",
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.4:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Gly6Asp",
        "hgvsWellDefined": "NP_004159.2:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.17G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.17G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Gly6Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Gly6Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837776",
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Gly6Asp",
        "hgvsWellDefined": "NP_001281261.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827347199",
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.2:c.17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Gly6Asp",
        "hgvsWellDefined": "NP_001317687.1:p.Gly6Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718763"
    }
  ],
  "type": "nucleotide"
}