{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341276011",
  "communityStandardTitle": [
    "NM_000350.3(ABCA4):c.2673A>C (p.Glu891Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94514494T>G?assembly=hg19",
        "id": "chr1:g.94514494T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94048938T>G?assembly=hg38",
        "id": "chr1:g.94048938T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94048938,
          "referenceAllele": "T",
          "start": 94048937
        }
      ],
      "hgvs": [
        "NC_000001.11:g.94048938T>G",
        "CM000663.2:g.94048938T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94514494,
          "referenceAllele": "T",
          "start": 94514493
        }
      ],
      "hgvs": [
        "NC_000001.10:g.94514494T>G",
        "CM000663.1:g.94514494T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94287082,
          "referenceAllele": "T",
          "start": 94287081
        }
      ],
      "hgvs": [
        "NC_000001.9:g.94287082T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77212,
          "referenceAllele": "A",
          "start": 77211
        }
      ],
      "hgvs": [
        "NG_009073.1:g.77212A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.4:c.2673A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Glu891Asp",
        "hgvsWellDefined": "ENSP00000359245.3:p.Glu891Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.2673A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.2673A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Glu891Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Glu891Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2531,
          "referenceAllele": "A",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000649773.1:c.2451A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496882.1:p.Glu817Asp",
        "hgvsWellDefined": "ENSP00000496882.1:p.Glu817Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2760,
          "referenceAllele": "A",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.3:c.2673A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Glu891Asp",
        "hgvsWellDefined": "ENSP00000359245.3:p.Glu891Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 8848,
          "referenceAllele": "A",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 8849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000536513.5:c.-64-8849A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439707.2:n.-64-8849A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139682444",
      "coordinates": [
        {
          "allele": "C",
          "end": 2777,
          "referenceAllele": "A",
          "start": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.2:c.2673A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Glu891Asp",
        "hgvsWellDefined": "NP_000341.2:p.Glu891Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139682444",
      "coordinates": [
        {
          "allele": "C",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.3:c.2673A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Glu891Asp",
        "hgvsWellDefined": "NP_000341.2:p.Glu891Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662411",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.2673A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.2673A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Glu891Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Glu891Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}