{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119215",
  "communityStandardTitle": [
    "NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23052[alleleid]",
        "alleleId": 23052,
        "preferredName": "NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8013",
        "RCV": [
          "RCV000008477"
        ],
        "variationId": 8013
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2328349A>G?assembly=hg19",
        "id": "chr16:g.2328349A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2278348A>G?assembly=hg38",
        "id": "chr16:g.2278348A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909183",
        "rs": 121909183
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2278348,
          "referenceAllele": "A",
          "start": 2278347
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2278348A>G",
        "CM000678.2:g.2278348A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2328349,
          "referenceAllele": "A",
          "start": 2328348
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2328349A>G",
        "CM000678.1:g.2328349A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2268350,
          "referenceAllele": "A",
          "start": 2268349
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2268350A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67399,
          "referenceAllele": "T",
          "start": 67398
        }
      ],
      "hgvs": [
        "NG_011790.1:g.67399T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001972"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5352,
          "referenceAllele": "T",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.10:c.4658T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Leu1553Pro",
        "hgvsWellDefined": "ENSP00000301732.5:p.Leu1553Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.4658T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.4658T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Leu1553Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Leu1553Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5359,
          "referenceAllele": "T",
          "start": 5358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.9:c.4658T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Leu1553Pro",
        "hgvsWellDefined": "ENSP00000301732.5:p.Leu1553Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5196,
          "referenceAllele": "T",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000382381.7:c.4484T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371818.3:p.Leu1495Pro",
        "hgvsWellDefined": "ENSP00000371818.3:p.Leu1495Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "referenceAllele": "T",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000566200.1:n.1179T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098140",
      "coordinates": [
        {
          "allele": "C",
          "end": 5370,
          "referenceAllele": "T",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.2:c.4658T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Leu1553Pro",
        "hgvsWellDefined": "NP_001080.2:p.Leu1553Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098140",
      "coordinates": [
        {
          "allele": "C",
          "end": 5352,
          "referenceAllele": "T",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.3:c.4658T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Leu1553Pro",
        "hgvsWellDefined": "NP_001080.2:p.Leu1553Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.4658T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.4658T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Leu1553Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Leu1553Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}