{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA484498282",
  "communityStandardTitle": [
    "NM_005845.5(ABCC4):c.3609G>C (p.Ala1203=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.95696540C>G?assembly=hg19",
        "id": "chr13:g.95696540C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11568695",
        "rs": 11568695
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 95044286,
          "referenceAllele": "C",
          "start": 95044285
        }
      ],
      "hgvs": [
        "NC_000013.11:g.95044286C>G",
        "CM000675.2:g.95044286C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 95696540,
          "referenceAllele": "C",
          "start": 95696539
        }
      ],
      "hgvs": [
        "NC_000013.10:g.95696540C>G",
        "CM000675.1:g.95696540C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 94494541,
          "referenceAllele": "C",
          "start": 94494540
        }
      ],
      "hgvs": [
        "NC_000013.9:g.94494541C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262161,
          "referenceAllele": "G",
          "start": 262160
        }
      ],
      "hgvs": [
        "NG_050651.1:g.262161G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262161,
          "referenceAllele": "G",
          "start": 262160
        }
      ],
      "hgvs": [
        "NG_050651.2:g.262161G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000471041.2:n.479G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4084,
          "referenceAllele": "G",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643051.1:c.*1520G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495513.1:n.*1520G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3912,
          "referenceAllele": "G",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643842.1:c.*3655G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493861.1:n.*3655G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000645237.2:c.3609G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494609.1:p.Ala1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.3609G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.3609G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:p.Ala1203="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:p.Ala1203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3473,
          "referenceAllele": "G",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000646439.1:c.3468G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494751.1:p.Ala1156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3724,
          "referenceAllele": "G",
          "start": 3723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000376887.8:c.3609G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366084.4:p.Ala1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000471041.1:n.493G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000484109.1:n.44G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3600,
          "referenceAllele": "G",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.1:c.3468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Ala1156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080623694",
      "coordinates": [
        {
          "allele": "C",
          "end": 3741,
          "referenceAllele": "G",
          "start": 3740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.4:c.3609G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Ala1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3801,
          "referenceAllele": "G",
          "start": 3800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_005254025.2:c.3480G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254082.1:p.Ala1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_006719914.1:c.3519G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719977.1:p.Ala1173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_011521047.1:c.3060G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519349.1:p.Ala1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3887,
          "referenceAllele": "G",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020319.1:c.3480G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875808.1:p.Ala1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3256,
          "referenceAllele": "G",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020321.1:c.2094G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875810.1:p.Ala698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3605,
          "referenceAllele": "G",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.2:c.3468G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Ala1156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080623694",
      "coordinates": [
        {
          "allele": "C",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.5:c.3609G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Ala1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.3609G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.3609G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:p.Ala1203="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:p.Ala1203="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}