{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6306015",
  "communityStandardTitle": [
    "NM_001655.5(ARCN1):c.163A>C (p.Arg55=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2044007[alleleid]",
        "alleleId": 2044007,
        "preferredName": "NM_001655.5(ARCN1):c.163A>C (p.Arg55=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1988767",
        "RCV": [
          "RCV002781466"
        ],
        "variationId": 1988767
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118452120-A-C",
        "id": "11-118452120-A-C",
        "variant": "11:118452120 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118452120A>C?assembly=hg19",
        "id": "chr11:g.118452120A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118581405A>C?assembly=hg38",
        "id": "chr11:g.118581405A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/530734033",
        "rs": 530734033
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118452120-A-C?dataset=gnomad_r2_1",
        "id": "11-118452120-A-C",
        "variant": "11:118452120 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118581405-A-C?dataset=gnomad_r3",
        "id": "11-118581405-A-C",
        "variant": "11:118581405 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118581405-A-C?dataset=gnomad_r4",
        "id": "11-118581405-A-C",
        "variant": "11:118581405 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118581405,
          "referenceAllele": "A",
          "start": 118581404
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118581405A>C",
        "CM000673.2:g.118581405A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118452120,
          "referenceAllele": "A",
          "start": 118452119
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118452120A>C",
        "CM000673.1:g.118452120A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 117957330,
          "referenceAllele": "A",
          "start": 117957329
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117957330A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14019,
          "referenceAllele": "A",
          "start": 14018
        }
      ],
      "hgvs": [
        "NG_051953.1:g.14019A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000264028.5:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264028.4:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742604",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264028.5:c.163A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001655.5:c.163A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264028.4:p.Arg55="
          },
          "RefSeq": {
            "hgvs": "NP_001646.2:p.Arg55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000264028.4:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264028.4:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000359415.8:c.286A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352385.4:p.Arg96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "endIntronDirection": "-",
          "endIntronOffset": 1773,
          "referenceAllele": "A",
          "start": 161,
          "startIntronDirection": "-",
          "startIntronOffset": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000392859.7:c.4-1774A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376599.3:n.4-1774A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000534182.2:c.159+4A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431676.1:n.159+4A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "A",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "ENST00000614498.4:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482114.1:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "endIntronDirection": "-",
          "endIntronOffset": 1773,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "-",
          "startIntronOffset": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "NM_001142281.1:c.4-1774A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135753.1:n.4-1774A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829336734",
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "NM_001655.4:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001646.2:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "XM_005271542.2:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271599.1:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "XM_005271542.4:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271599.1:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829336734",
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "NM_001655.5:c.163A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001646.2:p.Arg55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665092",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264028.5:c.163A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001655.5:c.163A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264028.4:p.Arg55="
          },
          "RefSeq": {
            "hgvs": "NP_001646.2:p.Arg55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 1773,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000649",
      "geneNCBI_id": 372,
      "geneSymbol": "ARCN1",
      "hgvs": [
        "NM_001142281.2:c.4-1774A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135753.1:n.4-1774A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712539"
    }
  ],
  "type": "nucleotide"
}