{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA237331147",
  "communityStandardTitle": [
    "NM_015665.6(AAAS):c.1087+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20085[alleleid]",
        "alleleId": 20085,
        "preferredName": "NM_015665.6(AAAS):c.1087+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5046",
        "RCV": [
          "RCV000005349",
          "RCV003555924"
        ],
        "variationId": 5046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53702508C>T?assembly=hg19",
        "id": "chr12:g.53702508C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53308724C>T?assembly=hg38",
        "id": "chr12:g.53308724C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1035139364",
        "rs": 1035139364
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53702508-C-T?dataset=gnomad_r2_1",
        "id": "12-53702508-C-T",
        "variant": "12:53702508 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53308724-C-T?dataset=gnomad_r3",
        "id": "12-53308724-C-T",
        "variant": "12:53308724 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53308724-C-T?dataset=gnomad_r4",
        "id": "12-53308724-C-T",
        "variant": "12:53308724 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 53308724,
          "referenceAllele": "C",
          "start": 53308723
        }
      ],
      "hgvs": [
        "NC_000012.12:g.53308724C>T",
        "CM000674.2:g.53308724C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 53702508,
          "referenceAllele": "C",
          "start": 53702507
        }
      ],
      "hgvs": [
        "NC_000012.11:g.53702508C>T",
        "CM000674.1:g.53702508C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 51988775,
          "referenceAllele": "C",
          "start": 51988774
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51988775C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17905,
          "referenceAllele": "G",
          "start": 17904
        }
      ],
      "hgvs": [
        "NG_016775.1:g.17905G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1232,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000209873.9:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209873.4:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740194",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209873.9:c.1087+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015665.6:c.1087+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209873.4:n.1087+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056480.1:n.1087+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2151,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2151,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000546562.6:n.2151+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000547238.6:n.1723+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1081,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000547520.6:n.1081+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1472,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000547757.2:c.136+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448020.2:n.136+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1537,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1537,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000548880.2:n.1537+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000548931.6:c.607+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457518.1:n.607+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000549450.6:n.1021+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000552161.6:n.2043+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000672797.1:n.1576+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2029,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2029,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000672900.1:n.2029+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1253,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000209873.8:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209873.4:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000394384.7:c.988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377908.3:n.988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000548931.5:c.607+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457518.1:n.607+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000550033.5:n.342+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000550286.5:c.715+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446885.1:n.715+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1430,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "ENST00000552876.5:n.1430+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1151,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "NM_001173466.1:c.988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166937.1:n.988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "NM_015665.5:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056480.1:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_006719617.2:c.1102+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719680.1:n.1102+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538777.1:c.1102+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537079.1:n.1102+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1182,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1182,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538778.1:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537080.1:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1031,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538779.1:c.1003+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537081.1:n.1003+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538780.1:c.988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537082.1:n.988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538781.1:c.436+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537083.1:n.436+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1207,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538778.2:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537080.1:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1108,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1108,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XM_011538780.2:c.988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537082.1:n.988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1144,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "XR_001748875.2:n.1144+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1232,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "NM_015665.6:c.1087+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056480.1:n.1087+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209873.9:c.1087+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015665.6:c.1087+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209873.4:n.1087+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056480.1:n.1087+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1133,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013666",
      "geneNCBI_id": 8086,
      "geneSymbol": "AAAS",
      "hgvs": [
        "NM_001173466.2:c.988+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166937.1:n.988+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678813"
    }
  ],
  "type": "nucleotide"
}