{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1201536908",
  "communityStandardTitle": [
    "NM_003126.4(SPTA1):c.7132C= (p.Gln2378=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795113",
        "rs": 1064795113
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 158612819,
          "referenceAllele": "G",
          "start": 158612818
        }
      ],
      "hgvs": [
        "NC_000001.11:g.158612819G=",
        "CM000663.2:g.158612819G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 158582609,
          "referenceAllele": "G",
          "start": 158582608
        }
      ],
      "hgvs": [
        "NC_000001.10:g.158582609G=",
        "CM000663.1:g.158582609G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156849233,
          "referenceAllele": "G",
          "start": 156849232
        }
      ],
      "hgvs": [
        "NC_000001.9:g.156849233G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78898,
          "referenceAllele": "C",
          "start": 78897
        }
      ],
      "hgvs": [
        "NG_011474.1:g.78898C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001742"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "ENST00000643759.2:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495214.1:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643759.2:c.7132C="
          },
          "RefSeq": {
            "hgvs": "NM_003126.4:c.7132C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495214.1:p.Gln2378="
          },
          "RefSeq": {
            "hgvs": "NP_003117.2:p.Gln2378="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7313,
          "referenceAllele": "C",
          "start": 7312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "ENST00000368147.8:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357129.4:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "ENST00000481212.5:n.573C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "ENST00000498708.1:n.564C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7313,
          "referenceAllele": "C",
          "start": 7312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "ENST00000614909.4:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482595.1:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933746",
      "coordinates": [
        {
          "allele": "C",
          "end": 7331,
          "referenceAllele": "C",
          "start": 7330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NM_003126.2:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003117.2:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7200,
          "referenceAllele": "C",
          "start": 7199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "XM_011509916.1:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508218.1:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7223,
          "referenceAllele": "C",
          "start": 7222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "XM_011509917.1:c.7114C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508219.1:p.Gln2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933746",
      "coordinates": [
        {
          "allele": "C",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NM_003126.3:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003117.2:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7209,
          "referenceAllele": "C",
          "start": 7208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "XM_011509916.2:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508218.1:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7239,
          "referenceAllele": "C",
          "start": 7238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "XM_011509917.3:c.7114C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508219.1:p.Gln2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933746",
      "coordinates": [
        {
          "allele": "C",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NM_003126.4:c.7132C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003117.2:p.Gln2378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643759.2:c.7132C="
          },
          "RefSeq": {
            "hgvs": "NM_003126.4:c.7132C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495214.1:p.Gln2378="
          },
          "RefSeq": {
            "hgvs": "NP_003117.2:p.Gln2378="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}