{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580609036",
  "communityStandardTitle": [
    "NM_001672.3(ASIP):c.*25A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6058017",
        "rs": 6058017
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-34269192-A-C?dataset=gnomad_r4",
        "id": "20-34269192-A-C",
        "variant": "20:34269192 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 34269192,
          "referenceAllele": "A",
          "start": 34269191
        }
      ],
      "hgvs": [
        "NC_000020.11:g.34269192A>C",
        "CM000682.2:g.34269192A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 32856998,
          "referenceAllele": "A",
          "start": 32856997
        }
      ],
      "hgvs": [
        "NC_000020.10:g.32856998A>C",
        "CM000682.1:g.32856998A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 32320659,
          "referenceAllele": "A",
          "start": 32320658
        }
      ],
      "hgvs": [
        "NC_000020.9:g.32320659A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13828,
          "referenceAllele": "A",
          "start": 13827
        }
      ],
      "hgvs": [
        "NG_011439.1:g.13828A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001717"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "ENST00000374954.4:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364092.3:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374954.4:c.*25A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001672.3:c.*25A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364092.3:n.*25A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001663.2:n.*25A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "A",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "ENST00000374954.3:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364092.3:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "A",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "NM_001672.2:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001663.2:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "A",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_005260412.2:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260469.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "endIntronDirection": "+",
          "endIntronOffset": 11835,
          "referenceAllele": "T",
          "start": 1278,
          "startIntronDirection": "+",
          "startIntronOffset": 11834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528657.1:c.*7+11835T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526959.1:n.*7+11835T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_011528820.1:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527122.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "referenceAllele": "A",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_011528821.1:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527123.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_011528822.1:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527124.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "referenceAllele": "A",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_011528823.1:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527125.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2490,
          "referenceAllele": "A",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_005260412.3:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260469.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1417,
          "endIntronDirection": "+",
          "endIntronOffset": 11835,
          "referenceAllele": "T",
          "start": 1417,
          "startIntronDirection": "+",
          "startIntronOffset": 11834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528657.2:c.*7+11835T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526959.2:n.*7+11835T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "referenceAllele": "A",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "XM_011528820.2:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527122.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "NM_001385218.1:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372147.1:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000745",
      "geneNCBI_id": 434,
      "geneSymbol": "ASIP",
      "hgvs": [
        "NM_001672.3:c.*25A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001663.2:n.*25A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374954.4:c.*25A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001672.3:c.*25A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364092.3:n.*25A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001663.2:n.*25A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}