{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338879190",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.705G>C (p.Glu235Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21894653G>C?assembly=hg19",
        "id": "chr1:g.21894653G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21568160G>C?assembly=hg38",
        "id": "chr1:g.21568160G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21568160,
          "referenceAllele": "G",
          "start": 21568159
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21568160G>C",
        "CM000663.2:g.21568160G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21894653,
          "referenceAllele": "G",
          "start": 21894652
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21894653G>C",
        "CM000663.1:g.21894653G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21767240,
          "referenceAllele": "G",
          "start": 21767239
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21767240G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 63796,
          "referenceAllele": "G",
          "start": 63795
        }
      ],
      "hgvs": [
        "NG_008940.1:g.63796G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Glu235Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.705G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.705G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Glu235Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Glu235Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Glu235Asp",
        "hgvsWellDefined": "ENSP00000363965.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Glu235Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.474G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Glu158Asp",
        "hgvsWellDefined": "ENSP00000437674.1:p.Glu158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.540G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Glu180Asp",
        "hgvsWellDefined": "ENSP00000442672.1:p.Glu180Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185440",
      "coordinates": [
        {
          "allele": "C",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu235Asp",
        "hgvsWellDefined": "NP_000469.3:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623475",
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.540G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu180Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Glu180Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118926",
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.474G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu158Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Glu158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Glu235Asp",
        "hgvsWellDefined": "XP_005245875.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245820.2:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245877.1:p.Glu235Asp",
        "hgvsWellDefined": "XP_005245877.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Glu235Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185440",
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu235Asp",
        "hgvsWellDefined": "NP_000469.3:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623475",
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.540G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu180Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Glu180Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118926",
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.474G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu158Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Glu158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Glu235Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.549G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Glu183Asp",
        "hgvsWellDefined": "XP_016856392.1:p.Glu183Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185440",
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Glu235Asp",
        "hgvsWellDefined": "NP_000469.3:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.705G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.705G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Glu235Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Glu235Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623475",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.540G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Glu180Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Glu180Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826118926",
      "coordinates": [
        {
          "allele": "C",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.474G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Glu158Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Glu158Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362369",
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Glu235Asp",
        "hgvsWellDefined": "NP_001356732.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363109",
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Glu235Asp",
        "hgvsWellDefined": "NP_001356733.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573211409",
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Glu235Asp",
        "hgvsWellDefined": "NP_001356734.1:p.Glu235Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}