{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA967442",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=558064[alleleid]",
        "alleleId": 558064,
        "preferredName": "NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582646",
        "RCV": [
          "RCV000706770"
        ],
        "variationId": 582646
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100382256-G-A",
        "id": "1-100382256-G-A",
        "variant": "1:100382256 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100382256G>A?assembly=hg19",
        "id": "chr1:g.100382256G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99916700G>A?assembly=hg38",
        "id": "chr1:g.99916700G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75076115",
        "rs": 75076115
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100382256-G-A?dataset=gnomad_r2_1",
        "id": "1-100382256-G-A",
        "variant": "1:100382256 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99916700-G-A?dataset=gnomad_r3",
        "id": "1-99916700-G-A",
        "variant": "1:99916700 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99916700-G-A?dataset=gnomad_r4",
        "id": "1-99916700-G-A",
        "variant": "1:99916700 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 99916700,
          "referenceAllele": "G",
          "start": 99916699
        }
      ],
      "hgvs": [
        "NC_000001.11:g.99916700G>A",
        "CM000663.2:g.99916700G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100382256,
          "referenceAllele": "G",
          "start": 100382255
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100382256G>A",
        "CM000663.1:g.100382256G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100154844,
          "referenceAllele": "G",
          "start": 100154843
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100154844G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71617,
          "referenceAllele": "G",
          "start": 71616
        }
      ],
      "hgvs": [
        "NG_012865.1:g.71617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4573,
          "referenceAllele": "G",
          "start": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.8:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Val1484Ile",
        "hgvsWellDefined": "ENSP00000355106.3:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.4450G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.4450G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Val1484Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Val1484Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.4661G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4928,
          "referenceAllele": "G",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Val1484Ile",
        "hgvsWellDefined": "ENSP00000294724.4:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.4402G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Val1468Ile",
        "hgvsWellDefined": "ENSP00000354971.3:p.Val1468Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361522.4:c.4399G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Val1467Ile",
        "hgvsWellDefined": "ENSP00000354635.4:p.Val1467Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4850,
          "referenceAllele": "G",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.7:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Val1484Ile",
        "hgvsWellDefined": "ENSP00000355106.3:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4402,
          "referenceAllele": "G",
          "start": 4401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.4402G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Val1468Ile",
        "hgvsWellDefined": "ENSP00000359180.2:p.Val1468Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4648,
          "referenceAllele": "G",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Val1484Ile",
        "hgvsWellDefined": "ENSP00000359182.3:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4588,
          "referenceAllele": "G",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Val1484Ile",
        "hgvsWellDefined": "ENSP00000359184.3:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007515",
      "coordinates": [
        {
          "allele": "A",
          "end": 4928,
          "referenceAllele": "G",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Val1484Ile",
        "hgvsWellDefined": "NP_000019.2:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855337",
      "coordinates": [
        {
          "allele": "A",
          "end": 4850,
          "referenceAllele": "G",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Val1484Ile",
        "hgvsWellDefined": "NP_000633.2:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825225774",
      "coordinates": [
        {
          "allele": "A",
          "end": 4648,
          "referenceAllele": "G",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Val1484Ile",
        "hgvsWellDefined": "NP_000634.2:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963462",
      "coordinates": [
        {
          "allele": "A",
          "end": 4588,
          "referenceAllele": "G",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Val1484Ile",
        "hgvsWellDefined": "NP_000635.2:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.4399G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Val1467Ile",
        "hgvsWellDefined": "NP_000636.2:p.Val1467Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825234757",
      "coordinates": [
        {
          "allele": "A",
          "end": 4661,
          "referenceAllele": "G",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.4402G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Val1468Ile",
        "hgvsWellDefined": "NP_000637.2:p.Val1468Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4543,
          "referenceAllele": "G",
          "start": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Val1484Ile",
        "hgvsWellDefined": "XP_005270614.1:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1317,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947626.1:n.1318-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1206,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947627.1:n.1207-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947628.1:n.1312-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947630.1:n.1250-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947632.1:n.1136-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947633.1:n.1247-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947634.1:n.661-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "endIntronDirection": "-",
          "endIntronOffset": 3482,
          "referenceAllele": "C",
          "start": 728,
          "startIntronDirection": "-",
          "startIntronOffset": 3483
        }
      ],
      "hgvs": [
        "XR_947635.1:n.729-3483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4543,
          "referenceAllele": "G",
          "start": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Val1484Ile",
        "hgvsWellDefined": "XP_005270614.1:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2778,
          "referenceAllele": "G",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.2710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Val904Ile",
        "hgvsWellDefined": "XP_016855990.1:p.Val904Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855337",
      "coordinates": [
        {
          "allele": "A",
          "end": 4573,
          "referenceAllele": "G",
          "start": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.4450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Val1484Ile",
        "hgvsWellDefined": "NP_000633.2:p.Val1484Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.4450G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.4450G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Val1484Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Val1484Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}