{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202173307",
  "communityStandardTitle": [
    "NM_001089.3(ABCA3):c.316C= (p.Arg106=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1278044377",
        "rs": 1278044377
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2326013,
          "referenceAllele": "G",
          "start": 2326012
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2326013G=",
        "CM000678.2:g.2326013G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2376014,
          "referenceAllele": "G",
          "start": 2376013
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2376014G=",
        "CM000678.1:g.2376014G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2316015,
          "referenceAllele": "G",
          "start": 2316014
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2316015G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19734,
          "referenceAllele": "C",
          "start": 19733
        }
      ],
      "hgvs": [
        "NG_011790.1:g.19734C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001972"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.10:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.316C="
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Arg106="
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Arg106="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.9:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000382381.7:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371818.3:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000563623.5:n.879C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000567910.1:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454397.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082893038",
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.2:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082893038",
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.3:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.316C="
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Arg106="
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Arg106="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}