{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2114389780",
  "communityStandardTitle": [
    "NM_052867.4(NALCN):c.3542G= (p.Arg1181=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786201003",
        "rs": 786201003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101083752,
          "referenceAllele": "C",
          "start": 101083751
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101083752C=",
        "CM000675.2:g.101083752C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101736103,
          "referenceAllele": "C",
          "start": 101736102
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101736103C=",
        "CM000675.1:g.101736103C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 100534104,
          "referenceAllele": "C",
          "start": 100534103
        }
      ],
      "hgvs": [
        "NC_000013.9:g.100534104C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338455,
          "referenceAllele": "G",
          "start": 338454
        }
      ],
      "hgvs": [
        "NG_053176.1:g.338455G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3777,
          "referenceAllele": "G",
          "start": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.11:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.3542G="
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.3542G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg1181="
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg1181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3743,
          "referenceAllele": "G",
          "start": 3742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000648359.1:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497465.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3361,
          "referenceAllele": "G",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675150.1:c.3263G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502680.1:p.Arg1088="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3803,
          "referenceAllele": "G",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675332.1:c.3629G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501955.1:p.Arg1210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3656,
          "referenceAllele": "G",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676315.1:c.3455G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501603.1:p.Arg1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3624,
          "referenceAllele": "G",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.10:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080697387",
      "coordinates": [
        {
          "allele": "G",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.2:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.1:c.3599G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg1200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3638,
          "referenceAllele": "G",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521068.1:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519370.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3583,
          "referenceAllele": "G",
          "start": 3582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.1:c.3512G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3391,
          "referenceAllele": "G",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521070.1:c.3320G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519372.1:p.Arg1107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3864,
          "referenceAllele": "G",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.1:c.3629G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg1210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.1:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3690,
          "referenceAllele": "G",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.1:c.3455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3567,
          "referenceAllele": "G",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.1:c.3455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080697387",
      "coordinates": [
        {
          "allele": "G",
          "end": 3777,
          "referenceAllele": "G",
          "start": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.3:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.2:c.3599G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg1200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3584,
          "referenceAllele": "G",
          "start": 3583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.2:c.3512G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020536.2:c.3095G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876025.1:p.Arg1032="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2872,
          "referenceAllele": "G",
          "start": 2871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020537.1:c.2777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876026.1:p.Arg926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3758,
          "referenceAllele": "G",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_024449336.1:c.3686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305104.1:p.Arg1229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080697387",
      "coordinates": [
        {
          "allele": "G",
          "end": 3777,
          "referenceAllele": "G",
          "start": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.4:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.3542G="
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.3542G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg1181="
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg1181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3864,
          "referenceAllele": "G",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.2:c.3629G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg1210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.2:c.3542G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg1181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3690,
          "referenceAllele": "G",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.2:c.3455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3567,
          "referenceAllele": "G",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.3455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}