{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519347223",
  "communityStandardTitle": [
    "NM_001151.4(SLC25A4):c.311A= (p.Asp104=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28999114",
        "rs": 28999114
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 185144963,
          "referenceAllele": "A",
          "start": 185144962
        }
      ],
      "hgvs": [
        "NC_000004.12:g.185144963A=",
        "CM000666.2:g.185144963A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186066117,
          "referenceAllele": "A",
          "start": 186066116
        }
      ],
      "hgvs": [
        "NC_000004.11:g.186066117A=",
        "CM000666.1:g.186066117A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186303111,
          "referenceAllele": "A",
          "start": 186303110
        }
      ],
      "hgvs": [
        "NC_000004.10:g.186303111A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6701,
          "referenceAllele": "A",
          "start": 6700
        }
      ],
      "hgvs": [
        "NG_013001.1:g.6701A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002648"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000281456.11:c.311A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281456.5:p.Asp104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281456.11:c.311A="
          },
          "RefSeq": {
            "hgvs": "NM_001151.4:c.311A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281456.5:p.Asp104="
          },
          "RefSeq": {
            "hgvs": "NP_001142.2:p.Asp104="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000281456.10:c.311A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281456.5:p.Asp104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000491736.1:c.311A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476711.1:p.Asp104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069877311",
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "NM_001151.3:c.311A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001142.2:p.Asp104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069877311",
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "NM_001151.4:c.311A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001142.2:p.Asp104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281456.11:c.311A="
          },
          "RefSeq": {
            "hgvs": "NM_001151.4:c.311A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281456.5:p.Asp104="
          },
          "RefSeq": {
            "hgvs": "NP_001142.2:p.Asp104="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}