{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1736323",
  "communityStandardTitle": [
    "NM_003849.4(SUCLG1):c.359T>G (p.Val120Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2857659[alleleid]",
        "alleleId": 2857659,
        "preferredName": "NM_003849.4(SUCLG1):c.359T>G (p.Val120Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2694952",
        "RCV": [
          "RCV003495433"
        ],
        "variationId": 2694952
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-84668543-A-C",
        "id": "2-84668543-A-C",
        "variant": "2:84668543 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.84668543A>C?assembly=hg19",
        "id": "chr2:g.84668543A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.84441419A>C?assembly=hg38",
        "id": "chr2:g.84441419A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371630011",
        "rs": 371630011
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-84668543-A-C?dataset=gnomad_r2_1",
        "id": "2-84668543-A-C",
        "variant": "2:84668543 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-84441419-A-C?dataset=gnomad_r4",
        "id": "2-84441419-A-C",
        "variant": "2:84441419 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 84441419,
          "referenceAllele": "A",
          "start": 84441418
        }
      ],
      "hgvs": [
        "NC_000002.12:g.84441419A>C",
        "CM000664.2:g.84441419A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 84668543,
          "referenceAllele": "A",
          "start": 84668542
        }
      ],
      "hgvs": [
        "NC_000002.11:g.84668543A>C",
        "CM000664.1:g.84668543A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 84522054,
          "referenceAllele": "A",
          "start": 84522053
        }
      ],
      "hgvs": [
        "NC_000002.10:g.84522054A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23044,
          "referenceAllele": "T",
          "start": 23043
        }
      ],
      "hgvs": [
        "NG_016755.1:g.23044T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000393868.7:c.359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377446.2:p.Val120Gly",
        "hgvsWellDefined": "ENSP00000377446.2:p.Val120Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393868.7:c.359T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003849.4:c.359T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377446.2:p.Val120Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003840.2:p.Val120Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000651342.1:c.359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498471.1:p.Val120Gly",
        "hgvsWellDefined": "ENSP00000498471.1:p.Val120Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000393868.6:c.359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377446.2:p.Val120Gly",
        "hgvsWellDefined": "ENSP00000377446.2:p.Val120Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000430989.1:n.399T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000442240.5:c.370T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000483605.5:n.438T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "ENST00000491642.5:n.531T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741902507",
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "NM_003849.3:c.359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003840.2:p.Val120Gly",
        "hgvsWellDefined": "NP_003840.2:p.Val120Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741902507",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011449",
      "geneNCBI_id": 8802,
      "geneSymbol": "SUCLG1",
      "hgvs": [
        "NM_003849.4:c.359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003840.2:p.Val120Gly",
        "hgvsWellDefined": "NP_003840.2:p.Val120Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393868.7:c.359T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003849.4:c.359T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377446.2:p.Val120Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003840.2:p.Val120Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}