{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388702952",
  "communityStandardTitle": [
    "NM_052867.4(NALCN):c.1768C>G (p.Leu590Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101828722G>C?assembly=hg19",
        "id": "chr13:g.101828722G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101176371G>C?assembly=hg38",
        "id": "chr13:g.101176371G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203986",
        "rs": 786203986
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-101828722-G-C?dataset=gnomad_r2_1",
        "id": "13-101828722-G-C",
        "variant": "13:101828722 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101176371,
          "referenceAllele": "G",
          "start": 101176370
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101176371G>C",
        "CM000675.2:g.101176371G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101828722,
          "referenceAllele": "G",
          "start": 101828721
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101828722G>C",
        "CM000675.1:g.101828722G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 100626723,
          "referenceAllele": "G",
          "start": 100626722
        }
      ],
      "hgvs": [
        "NC_000013.9:g.100626723G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 245836,
          "referenceAllele": "C",
          "start": 245835
        }
      ],
      "hgvs": [
        "NG_053176.1:g.245836C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.11:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000251127.6:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.1768C>G"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.1768C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Leu590Val"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Leu590Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "C",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000648359.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497465.1:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000497465.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000674840.1:n.1866C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675150.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502680.1:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000502680.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675332.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501955.1:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000501955.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675802.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501818.1:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000501818.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675891.1:n.608C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676315.1:c.1681C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501603.1:p.Leu561Val",
        "hgvsWellDefined": "ENSP00000501603.1:p.Leu561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676439.1:n.1942C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.10:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Leu590Val",
        "hgvsWellDefined": "ENSP00000251127.6:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000497170.5:n.1922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781032",
      "coordinates": [
        {
          "allele": "G",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.2:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu590Val",
        "hgvsWellDefined": "NP_443099.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.1:c.1825C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Leu609Val",
        "hgvsWellDefined": "XP_011519369.1:p.Leu609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521068.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519370.1:p.Leu590Val",
        "hgvsWellDefined": "XP_011519370.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.1:c.1738C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Leu580Val",
        "hgvsWellDefined": "XP_011519371.1:p.Leu580Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521070.1:c.1825C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519372.1:p.Leu609Val",
        "hgvsWellDefined": "XP_011519372.1:p.Leu609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Leu590Val",
        "hgvsWellDefined": "NP_001337677.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.1:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Leu590Val",
        "hgvsWellDefined": "NP_001337678.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.1:c.1681C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Leu561Val",
        "hgvsWellDefined": "NP_001337679.1:p.Leu561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.1:c.1681C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Leu561Val",
        "hgvsWellDefined": "NP_001337680.1:p.Leu561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781032",
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.3:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu590Val",
        "hgvsWellDefined": "NP_443099.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "C",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.2:c.1825C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Leu609Val",
        "hgvsWellDefined": "XP_011519369.1:p.Leu609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "C",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.2:c.1738C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Leu580Val",
        "hgvsWellDefined": "XP_011519371.1:p.Leu580Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020536.2:c.1321C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876025.1:p.Leu441Val",
        "hgvsWellDefined": "XP_016876025.1:p.Leu441Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020537.1:c.1003C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876026.1:p.Leu335Val",
        "hgvsWellDefined": "XP_016876026.1:p.Leu335Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "C",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_024449336.1:c.1825C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305104.1:p.Leu609Val",
        "hgvsWellDefined": "XP_024305104.1:p.Leu609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080781032",
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.4:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Leu590Val",
        "hgvsWellDefined": "NP_443099.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.1768C>G"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.1768C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Leu590Val"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Leu590Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.2:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Leu590Val",
        "hgvsWellDefined": "NP_001337677.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.2:c.1768C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Leu590Val",
        "hgvsWellDefined": "NP_001337678.1:p.Leu590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.2:c.1681C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Leu561Val",
        "hgvsWellDefined": "NP_001337679.1:p.Leu561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.1681C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Leu561Val",
        "hgvsWellDefined": "NP_001337680.1:p.Leu561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}