{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2114456000",
  "communityStandardTitle": [
    "NM_052867.4(NALCN):c.1526T= (p.Leu509=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203987",
        "rs": 786203987
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 101229493,
          "referenceAllele": "A",
          "start": 101229492
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101229493A=",
        "CM000675.2:g.101229493A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 101881844,
          "referenceAllele": "A",
          "start": 101881843
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101881844A=",
        "CM000675.1:g.101881844A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 100679845,
          "referenceAllele": "A",
          "start": 100679844
        }
      ],
      "hgvs": [
        "NC_000013.9:g.100679845A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192714,
          "referenceAllele": "T",
          "start": 192713
        }
      ],
      "hgvs": [
        "NG_053176.1:g.192714T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.11:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.1526T="
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.1526T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Leu509="
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Leu509="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "T",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000648359.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497465.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "T",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000674840.1:n.1624T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "T",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000674904.1:n.1606T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "T",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675150.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502680.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675332.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501955.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "T",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675594.1:c.*963T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502490.1:n.*963T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "T",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675802.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501818.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1640,
          "referenceAllele": "T",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676315.1:c.1439T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501603.1:p.Leu480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676439.1:n.1700T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "T",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.10:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "T",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000470333.1:n.1622T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "T",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000497170.5:n.1680T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781029",
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "T",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.2:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.1:c.1583T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "T",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521068.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519370.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "T",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.1:c.1496T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521070.1:c.1583T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519372.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.1:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "T",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.1:c.1439T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Leu480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "T",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.1:c.1439T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Leu480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781029",
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.3:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.2:c.1583T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "T",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.2:c.1496T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020536.2:c.1079T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876025.1:p.Leu360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "T",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020537.1:c.761T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876026.1:p.Leu254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_024449336.1:c.1583T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305104.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781029",
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.4:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.1526T="
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.1526T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Leu509="
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Leu509="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.2:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.2:c.1526T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Leu509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "T",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.2:c.1439T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Leu480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "T",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.1439T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Leu480="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}