{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397687214",
  "communityStandardTitle": [
    "NM_000049.4(ASPA):c.750A>T (p.Gln250His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3402190A>T?assembly=hg19",
        "id": "chr17:g.3402190A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3498896A>T?assembly=hg38",
        "id": "chr17:g.3498896A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3498896,
          "referenceAllele": "A",
          "start": 3498895
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3498896A>T",
        "CM000679.2:g.3498896A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3402190,
          "referenceAllele": "A",
          "start": 3402189
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3402190A>T",
        "CM000679.1:g.3402190A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3348940,
          "referenceAllele": "A",
          "start": 3348939
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3348940A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29787,
          "referenceAllele": "A",
          "start": 29786
        }
      ],
      "hgvs": [
        "NG_008399.1:g.29787A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30251,
          "referenceAllele": "A",
          "start": 30250
        }
      ],
      "hgvs": [
        "NG_008399.2:g.30251A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706084"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000263080.3:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263080.2:p.Gln250His",
        "hgvsWellDefined": "ENSP00000263080.2:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263080.3:c.750A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000049.4:c.750A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263080.2:p.Gln250His"
          },
          "RefSeq": {
            "hgvs": "NP_000040.1:p.Gln250His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "A",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000263080.2:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263080.2:p.Gln250His",
        "hgvsWellDefined": "ENSP00000263080.2:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "ENST00000456349.6:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409976.2:p.Gln250His",
        "hgvsWellDefined": "ENSP00000409976.2:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "ENST00000541913.5:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441920.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 14715,
          "referenceAllele": "T",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 14714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "ENST00000570318.1:c.-74+14715T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459147.1:n.-74+14715T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051389283",
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "A",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.2:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Gln250His",
        "hgvsWellDefined": "NP_000040.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_001128085.1:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121557.1:p.Gln250His",
        "hgvsWellDefined": "NP_001121557.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "XM_005256829.1:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256886.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "XM_005256830.1:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256887.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "A",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_006721527.2:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721590.1:p.Gln250His",
        "hgvsWellDefined": "XP_006721590.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XR_934026.1:n.1017A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321336.1:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308265.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321337.1:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308266.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_017024661.1:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880150.1:p.Gln250His",
        "hgvsWellDefined": "XP_016880150.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XM_024450764.1:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306532.1:p.Gln250His",
        "hgvsWellDefined": "XP_024306532.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "XR_934026.2:n.1017A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051389283",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.3:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Gln250His",
        "hgvsWellDefined": "NP_000040.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051389283",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000756",
      "geneNCBI_id": 443,
      "geneSymbol": "ASPA",
      "hgvs": [
        "NM_000049.4:c.750A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000040.1:p.Gln250His",
        "hgvsWellDefined": "NP_000040.1:p.Gln250His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263080.3:c.750A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000049.4:c.750A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263080.2:p.Gln250His"
          },
          "RefSeq": {
            "hgvs": "NP_000040.1:p.Gln250His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321336.2:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308265.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 14516,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 14515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030705",
      "geneNCBI_id": 84690,
      "geneSymbol": "SPATA22",
      "hgvs": [
        "NM_001321337.2:c.-74+14516T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308266.1:n.-74+14516T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717957"
    }
  ],
  "type": "nucleotide"
}