{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119463911",
  "communityStandardTitle": [
    "NC_000005.10:g.60440946A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.59736773A>T?assembly=hg19",
        "id": "chr5:g.59736773A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.60440946A>T?assembly=hg38",
        "id": "chr5:g.60440946A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/702553",
        "rs": 702553
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-59736773-A-T?dataset=gnomad_r2_1",
        "id": "5-59736773-A-T",
        "variant": "5:59736773 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-60440946-A-T?dataset=gnomad_r3",
        "id": "5-60440946-A-T",
        "variant": "5:60440946 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-60440946-A-T?dataset=gnomad_r4",
        "id": "5-60440946-A-T",
        "variant": "5:60440946 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 60440946,
          "referenceAllele": "A",
          "start": 60440945
        }
      ],
      "hgvs": [
        "NC_000005.10:g.60440946A>T",
        "CM000667.2:g.60440946A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 59736773,
          "referenceAllele": "A",
          "start": 59736772
        }
      ],
      "hgvs": [
        "NC_000005.9:g.59736773A>T",
        "CM000667.1:g.59736773A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 59772530,
          "referenceAllele": "A",
          "start": 59772529
        }
      ],
      "hgvs": [
        "NC_000005.8:g.59772530A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52153,
          "referenceAllele": "T",
          "start": 52152
        }
      ],
      "hgvs": [
        "NG_027957.1:g.52153T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88384,
          "referenceAllele": "T",
          "start": 88383
        }
      ],
      "hgvs": [
        "NG_027957.2:g.88384T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616278"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000502484.6:c.-90+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423094.2:n.-90+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000505507.6:c.-213+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425910.2:n.-213+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "endIntronDirection": "+",
          "endIntronOffset": 7691,
          "referenceAllele": "T",
          "start": 71,
          "startIntronDirection": "+",
          "startIntronOffset": 7690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000506024.5:n.71+7691T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "endIntronDirection": "+",
          "endIntronOffset": 81105,
          "referenceAllele": "T",
          "start": 70,
          "startIntronDirection": "+",
          "startIntronOffset": 81104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000506510.6:n.70+81105T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000509355.5:n.157+46996T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000511382.1:n.124+46996T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000515835.2:c.-213+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424281.2:n.-213+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.1:c.-90+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:n.-90+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "endIntronDirection": "+",
          "endIntronOffset": 81105,
          "referenceAllele": "T",
          "start": 70,
          "startIntronDirection": "+",
          "startIntronOffset": 81104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543472.1:c.-90+81105T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541774.1:n.-90+81105T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "endIntronDirection": "+",
          "endIntronOffset": 7691,
          "referenceAllele": "T",
          "start": 71,
          "startIntronDirection": "+",
          "startIntronOffset": 7690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543473.1:c.-90+7691T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541775.1:n.-90+7691T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.1:c.-193+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:n.-193+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.1:c.-674+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.-674+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 55193,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 55192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364599.1:c.-90+55193T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351528.1:n.-90+55193T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009566.1:c.-139+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865055.1:n.-139+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "endIntronDirection": "+",
          "endIntronOffset": 81105,
          "referenceAllele": "T",
          "start": 2279,
          "startIntronDirection": "+",
          "startIntronOffset": 81104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446110.1:c.-90+81105T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301878.1:n.-90+81105T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "endIntronDirection": "+",
          "endIntronOffset": 81105,
          "referenceAllele": "T",
          "start": 2279,
          "startIntronDirection": "+",
          "startIntronOffset": 81104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446112.1:c.-90+81105T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301880.1:n.-90+81105T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.2:c.-90+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:n.-90+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.2:c.-193+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:n.-193+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 46996,
          "referenceAllele": "T",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 46995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.2:c.-674+46996T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.-674+46996T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687899"
    }
  ],
  "type": "nucleotide"
}