{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338881801",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832671[alleleid]",
        "alleleId": 2832671,
        "preferredName": "NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2665102",
        "RCV": [
          "RCV003448652"
        ],
        "variationId": 2665102
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21903084G>A?assembly=hg19",
        "id": "chr1:g.21903084G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21576591G>A?assembly=hg38",
        "id": "chr1:g.21576591G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2545347491",
        "rs": 2545347491
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21576591-G-A?dataset=gnomad_r4",
        "id": "1-21576591-G-A",
        "variant": "1:21576591 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21576591,
          "referenceAllele": "G",
          "start": 21576590
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21576591G>A",
        "CM000663.2:g.21576591G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21903084,
          "referenceAllele": "G",
          "start": 21903083
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21903084G>A",
        "CM000663.1:g.21903084G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21775671,
          "referenceAllele": "G",
          "start": 21775670
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21775671G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72227,
          "referenceAllele": "G",
          "start": 72226
        }
      ],
      "hgvs": [
        "NG_008940.1:g.72227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Gly420Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1259G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1259G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Gly420Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Gly420Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374829.2:n.528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374830.2:c.334G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Gly420Asp",
        "hgvsWellDefined": "ENSP00000363965.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Gly420Asp",
        "hgvsWellDefined": "ENSP00000363973.3:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.1028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:p.Gly343Asp",
        "hgvsWellDefined": "ENSP00000437674.1:p.Gly343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:p.Gly365Asp",
        "hgvsWellDefined": "ENSP00000442672.1:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Gly420Asp",
        "hgvsWellDefined": "NP_000469.3:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Gly365Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.1028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Gly343Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Gly343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Gly420Asp",
        "hgvsWellDefined": "XP_005245875.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Gly420Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Gly420Asp",
        "hgvsWellDefined": "NP_000469.3:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Gly365Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1242,
          "referenceAllele": "G",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.1028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Gly343Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Gly343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Gly420Asp",
        "hgvsWellDefined": "XP_006710609.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_017000903.1:c.1103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856392.1:p.Gly368Asp",
        "hgvsWellDefined": "XP_016856392.1:p.Gly368Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Gly420Asp",
        "hgvsWellDefined": "NP_000469.3:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.1259G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.1259G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Gly420Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Gly420Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:p.Gly365Asp",
        "hgvsWellDefined": "NP_001120973.2:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826119345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.1028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:p.Gly343Asp",
        "hgvsWellDefined": "NP_001170991.1:p.Gly343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828362635",
      "coordinates": [
        {
          "allele": "A",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Gly420Asp",
        "hgvsWellDefined": "NP_001356732.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828363376",
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Gly420Asp",
        "hgvsWellDefined": "NP_001356733.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741874136",
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "G",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Gly420Asp",
        "hgvsWellDefined": "NP_001356734.1:p.Gly420Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}