{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226909",
  "communityStandardTitle": [
    "NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104956[alleleid]",
        "alleleId": 104956,
        "preferredName": "NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99066",
        "RCV": [
          "RCV000085409",
          "RCV000132585"
        ],
        "variationId": 99066
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-94577135-C-A",
        "id": "1-94577135-C-A",
        "variant": "1:94577135 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94577135C>A?assembly=hg19",
        "id": "chr1:g.94577135C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94111579C>A?assembly=hg38",
        "id": "chr1:g.94111579C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150774447",
        "rs": 150774447
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-94577135-C-A?dataset=gnomad_r2_1",
        "id": "1-94577135-C-A",
        "variant": "1:94577135 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-94111579-C-A?dataset=gnomad_r4",
        "id": "1-94111579-C-A",
        "variant": "1:94111579 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 94111579,
          "referenceAllele": "C",
          "start": 94111578
        }
      ],
      "hgvs": [
        "NC_000001.11:g.94111579C>A",
        "CM000663.2:g.94111579C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 94577135,
          "referenceAllele": "C",
          "start": 94577134
        }
      ],
      "hgvs": [
        "NC_000001.10:g.94577135C>A",
        "CM000663.1:g.94577135C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 94349723,
          "referenceAllele": "C",
          "start": 94349722
        }
      ],
      "hgvs": [
        "NC_000001.9:g.94349723C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14571,
          "referenceAllele": "G",
          "start": 14570
        }
      ],
      "hgvs": [
        "NG_009073.1:g.14571G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.4:c.161G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Cys54Phe",
        "hgvsWellDefined": "ENSP00000359245.3:p.Cys54Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.161G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.161G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Cys54Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Cys54Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000649773.1:c.161G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496882.1:p.Cys54Phe",
        "hgvsWellDefined": "ENSP00000496882.1:p.Cys54Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.3:c.161G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Cys54Phe",
        "hgvsWellDefined": "ENSP00000359245.3:p.Cys54Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226910",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.2:c.161G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Cys54Phe",
        "hgvsWellDefined": "NP_000341.2:p.Cys54Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226910",
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.3:c.161G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Cys54Phe",
        "hgvsWellDefined": "NP_000341.2:p.Cys54Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662411",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.161G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.161G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Cys54Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Cys54Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}