{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144815",
  "communityStandardTitle": [
    "NM_001151.4(SLC25A4):c.111+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76919[alleleid]",
        "alleleId": 76919,
        "preferredName": "NM_001151.4(SLC25A4):c.111+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66011",
        "RCV": [
          "RCV000056253"
        ],
        "variationId": 66011
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186064638G>A?assembly=hg19",
        "id": "chr4:g.186064638G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.185143484G>A?assembly=hg38",
        "id": "chr4:g.185143484G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122942",
        "rs": 398122942
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 185143484,
          "referenceAllele": "G",
          "start": 185143483
        }
      ],
      "hgvs": [
        "NC_000004.12:g.185143484G>A",
        "CM000666.2:g.185143484G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186064638,
          "referenceAllele": "G",
          "start": 186064637
        }
      ],
      "hgvs": [
        "NC_000004.11:g.186064638G>A",
        "CM000666.1:g.186064638G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186301632,
          "referenceAllele": "G",
          "start": 186301631
        }
      ],
      "hgvs": [
        "NC_000004.10:g.186301632G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5222,
          "referenceAllele": "G",
          "start": 5221
        }
      ],
      "hgvs": [
        "NG_013001.1:g.5222G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002648"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000281456.11:c.111+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281456.5:n.111+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281456.11:c.111+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001151.4:c.111+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281456.5:n.111+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001142.2:n.111+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000281456.10:c.111+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281456.5:n.111+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "ENST00000491736.1:c.111+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476711.1:n.111+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "NM_001151.3:c.111+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001142.2:n.111+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010990",
      "geneNCBI_id": 291,
      "geneSymbol": "SLC25A4",
      "hgvs": [
        "NM_001151.4:c.111+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001142.2:n.111+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281456.11:c.111+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001151.4:c.111+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281456.5:n.111+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001142.2:n.111+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}