{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881377",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1142A>G (p.His381Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=612078[alleleid]",
        "alleleId": 612078,
        "preferredName": "NM_000478.6(ALPL):c.1142A>G (p.His381Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/623122",
        "RCV": [
          "RCV000761222",
          "RCV002533861"
        ],
        "variationId": 623122
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21902370A>G?assembly=hg19",
        "id": "chr1:g.21902370A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21575877A>G?assembly=hg38",
        "id": "chr1:g.21575877A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1558557428",
        "rs": 1558557428
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21575877,
          "referenceAllele": "A",
          "start": 21575876
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21575877A>G",
        "CM000663.2:g.21575877A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21902370,
          "referenceAllele": "A",
          "start": 21902369
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21902370A>G",
        "CM000663.1:g.21902370A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 21774957,
          "referenceAllele": "A",
          "start": 21774956
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21774957A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71513,
          "referenceAllele": "A",
          "start": 71512
        }
      ],
      "hgvs": [
        "NG_008940.1:g.71513A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "A",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.His381Arg",
        "hgvsWellDefined": "ENSP00000363973.3:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1142A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1142A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.His381Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.His381Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.411A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "referenceAllele": "A",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.217A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.His381Arg",
        "hgvsWellDefined": "ENSP00000363965.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "A",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.His381Arg",
        "hgvsWellDefined": "ENSP00000363973.3:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.911A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.His304Arg",
        "hgvsWellDefined": "ENSP00000437674.1:p.His304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "A",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.His326Arg",
        "hgvsWellDefined": "ENSP00000442672.1:p.His326Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113168",
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "A",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.His381Arg",
        "hgvsWellDefined": "NP_000469.3:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.His326Arg",
        "hgvsWellDefined": "NP_001120973.2:p.His326Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "referenceAllele": "A",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.911A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.His304Arg",
        "hgvsWellDefined": "NP_001170991.1:p.His304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1376,
          "referenceAllele": "A",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.His381Arg",
        "hgvsWellDefined": "XP_005245875.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.His381Arg",
        "hgvsWellDefined": "XP_006710609.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113168",
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "A",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.His381Arg",
        "hgvsWellDefined": "NP_000469.3:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.His326Arg",
        "hgvsWellDefined": "NP_001120973.2:p.His326Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.911A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.His304Arg",
        "hgvsWellDefined": "NP_001170991.1:p.His304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "referenceAllele": "A",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.His381Arg",
        "hgvsWellDefined": "XP_006710609.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.986A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.His329Arg",
        "hgvsWellDefined": "XP_016856392.1:p.His329Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113168",
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "A",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.His381Arg",
        "hgvsWellDefined": "NP_000469.3:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1142A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1142A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.His381Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.His381Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.His326Arg",
        "hgvsWellDefined": "NP_001120973.2:p.His326Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119258",
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.911A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.His304Arg",
        "hgvsWellDefined": "NP_001170991.1:p.His304Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362573",
      "coordinates": [
        {
          "allele": "G",
          "end": 1405,
          "referenceAllele": "A",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.His381Arg",
        "hgvsWellDefined": "NP_001356732.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363313",
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "A",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.His381Arg",
        "hgvsWellDefined": "NP_001356733.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047953",
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "A",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.His381Arg",
        "hgvsWellDefined": "NP_001356734.1:p.His381Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}