{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA461348251",
  "communityStandardTitle": [
    "NM_020361.5(CPA6):c.544C>A (p.Arg182=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.68419114G>T?assembly=hg19",
        "id": "chr8:g.68419114G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773734224",
        "rs": 773734224
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-67506879-G-T?dataset=gnomad_r3",
        "id": "8-67506879-G-T",
        "variant": "8:67506879 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-67506879-G-T?dataset=gnomad_r4",
        "id": "8-67506879-G-T",
        "variant": "8:67506879 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 67506879,
          "referenceAllele": "G",
          "start": 67506878
        }
      ],
      "hgvs": [
        "NC_000008.11:g.67506879G>T",
        "CM000670.2:g.67506879G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 68419114,
          "referenceAllele": "G",
          "start": 68419113
        }
      ],
      "hgvs": [
        "NC_000008.10:g.68419114G>T",
        "CM000670.1:g.68419114G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 68581668,
          "referenceAllele": "G",
          "start": 68581667
        }
      ],
      "hgvs": [
        "NC_000008.9:g.68581668G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244507,
          "referenceAllele": "C",
          "start": 244506
        }
      ],
      "hgvs": [
        "NG_027682.1:g.244507C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003905"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "ENST00000297770.10:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297770.4:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297770.10:c.544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020361.5:c.544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297770.4:p.Arg182="
          },
          "RefSeq": {
            "hgvs": "NP_065094.3:p.Arg182="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "ENST00000638254.1:c.*140C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491129.1:n.*140C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "ENST00000297770.8:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297770.4:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "ENST00000479862.6:c.*140C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419016.2:n.*140C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "ENST00000518549.1:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431112.1:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074913010",
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "NM_020361.4:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065094.3:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XM_011517569.1:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515871.1:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XM_011517570.1:c.100C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515872.1:p.Arg34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XM_011517570.2:c.100C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515872.1:p.Arg34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XM_017013646.1:c.100C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869135.1:p.Arg34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XM_017013647.1:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869136.1:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "XR_001745565.1:n.1352C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074913010",
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "NM_020361.5:c.544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065094.3:p.Arg182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297770.10:c.544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020361.5:c.544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297770.4:p.Arg182="
          },
          "RefSeq": {
            "hgvs": "NP_065094.3:p.Arg182="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}