{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA497453030",
  "communityStandardTitle": [
    "NM_000049.4(ASPA):c.492T>C (p.Tyr164=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1564329[alleleid]",
        "alleleId": 1564329,
        "preferredName": "NM_000049.4(ASPA):c.492T>C (p.Tyr164=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1644288",
        "RCV": [
          "RCV002140450"
        ],
        "variationId": 1644288
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3386852T>C?assembly=hg19",
        "id": "chr17:g.3386852T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2150748665",
        "rs": 2150748665
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 3483558,
          "referenceAllele": "T",
          "start": 3483557
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3483558T>C",
        "CM000679.2:g.3483558T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 3386852,
          "referenceAllele": "T",
          "start": 3386851
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3386852T>C",
        "CM000679.1:g.3386852T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 3333602,
          "referenceAllele": "T",
          "start": 3333601
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3333602T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14449,
          "referenceAllele": "T",
          "start": 14448
        }
      ],
      "hgvs": [
        "NG_008399.1:g.14449T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14913,
          "referenceAllele": "T",
          "start": 14912
        }
      ],
      "hgvs": [
        "NG_008399.2:g.14913T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706084"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000263080.3:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263080.2:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263080.3:c.492T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000049.4:c.492T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263080.2:p.Tyr164="
          },
          "RefSeq": {
            "hgvs": "NP_000040.1:p.Tyr164="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "T",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000263080.2:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263080.2:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "T",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000456349.6:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409976.2:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "ENST00000541913.5:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441920.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "ENST00000570318.1:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459147.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000571278.1:c.*226T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461358.1:n.*226T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028973",
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "T",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.2:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825662734",
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "T",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_001128085.1:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121557.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "XM_005256829.1:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256886.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "XM_005256830.1:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256887.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "T",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_006721527.2:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721590.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XR_934026.1:n.667T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321336.1:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308265.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321337.1:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308266.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "T",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_017024661.1:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880150.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 534,
          "referenceAllele": "T",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_024450764.1:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306532.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XR_934026.2:n.667T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028973",
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.3:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028973",
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.4:c.492T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263080.3:c.492T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000049.4:c.492T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263080.2:p.Tyr164="
          },
          "RefSeq": {
            "hgvs": "NP_000040.1:p.Tyr164="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321336.2:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308265.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 14159,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 14160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321337.2:c.-73-14160A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308266.1:n.-73-14160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717957"
    }
  ],
  "type": "nucleotide"
}