{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA306258932",
  "communityStandardTitle": [
    "NM_001492.6(GDF1):c.-1307C>A",
    "NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=532791[alleleid]",
        "alleleId": 532791,
        "preferredName": "NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/542128",
        "RCV": [
          "RCV000652507",
          "RCV004025868"
        ],
        "variationId": 542128
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.19006866G>T?assembly=hg19",
        "id": "chr19:g.19006866G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18896057G>T?assembly=hg38",
        "id": "chr19:g.18896057G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1041161328",
        "rs": 1041161328
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-19006866-G-T?dataset=gnomad_r2_1",
        "id": "19-19006866-G-T",
        "variant": "19:19006866 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18896057-G-T?dataset=gnomad_r3",
        "id": "19-18896057-G-T",
        "variant": "19:18896057 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18896057-G-T?dataset=gnomad_r4",
        "id": "19-18896057-G-T",
        "variant": "19:18896057 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18896057,
          "referenceAllele": "G",
          "start": 18896056
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18896057G>T",
        "CM000681.2:g.18896057G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 19006866,
          "referenceAllele": "G",
          "start": 19006865
        }
      ],
      "hgvs": [
        "NC_000019.9:g.19006866G>T",
        "CM000681.1:g.19006866G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18867866,
          "referenceAllele": "G",
          "start": 18867865
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18867866G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5088,
          "referenceAllele": "C",
          "start": 5087
        }
      ],
      "hgvs": [
        "NG_012070.1:g.5088C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5088,
          "referenceAllele": "C",
          "start": 5087
        }
      ],
      "hgvs": [
        "NG_033056.1:g.5088C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005388"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "ENST00000623882.4:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485308.1:p.Pro6Thr",
        "hgvsWellDefined": "ENSP00000485308.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623882.4:c.16C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021267.5:c.16C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485308.1:p.Pro6Thr"
          },
          "RefSeq": {
            "hgvs": "NP_067090.1:p.Pro6Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004214",
      "geneNCBI_id": 2657,
      "geneSymbol": "GDF1",
      "hgvs": [
        "ENST00000247005.8:c.-1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247005.5:n.-1307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741319",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000247005.8:c.-1307C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001492.6:c.-1307C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000247005.5:n.-1307C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001483.3:n.-1307C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "referenceAllele": "C",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004214",
      "geneNCBI_id": 2657,
      "geneSymbol": "GDF1",
      "hgvs": [
        "ENST00000247005.7:c.-1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247005.5:n.-1307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "ENST00000429504.6:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389044.1:p.Pro6Thr",
        "hgvsWellDefined": "ENSP00000389044.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 504,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "ENST00000542296.6:c.-46+504C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437648.1:n.-46+504C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "referenceAllele": "C",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "ENST00000623882.3:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485308.1:p.Pro6Thr",
        "hgvsWellDefined": "ENSP00000485308.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "ENST00000623927.1:c.-1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485582.1:n.-1307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 504,
          "referenceAllele": "C",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001290265.1:c.-46+504C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277194.1:n.-46+504C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004214",
      "geneNCBI_id": 2657,
      "geneSymbol": "GDF1",
      "hgvs": [
        "NM_001492.5:c.-1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001483.3:n.-1307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806638",
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_021267.4:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_067090.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_067090.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057550",
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_198207.2:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937850.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_937850.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004214",
      "geneNCBI_id": 2657,
      "geneSymbol": "GDF1",
      "hgvs": [
        "NM_001492.6:c.-1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001483.3:n.-1307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000247005.8:c.-1307C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001492.6:c.-1307C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000247005.5:n.-1307C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001483.3:n.-1307C>A"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806638",
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_021267.5:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_067090.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_067090.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623882.4:c.16C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021267.5:c.16C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485308.1:p.Pro6Thr"
          },
          "RefSeq": {
            "hgvs": "NP_067090.1:p.Pro6Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057550",
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_198207.3:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937850.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_937850.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 504,
          "referenceAllele": "C",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001290265.2:c.-46+504C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277194.1:n.-46+504C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004214",
      "geneNCBI_id": 2657,
      "geneSymbol": "GDF1",
      "hgvs": [
        "NM_001387438.1:c.-887C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374367.1:n.-887C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829143180",
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387439.1:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374368.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_001374368.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829143403",
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387440.1:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374369.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_001374369.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829143629",
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387441.1:c.16C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374370.1:p.Pro6Thr",
        "hgvsWellDefined": "NP_001374370.1:p.Pro6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 504,
          "referenceAllele": "C",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387442.1:c.-46+504C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374371.1:n.-46+504C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "endIntronDirection": "+",
          "endIntronOffset": 669,
          "referenceAllele": "C",
          "start": 257,
          "startIntronDirection": "+",
          "startIntronOffset": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387443.1:c.-46+669C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374372.1:n.-46+669C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387444.1:c.-513C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374373.1:n.-513C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NM_001387445.1:c.-460C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374374.1:n.-460C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS725182"
    }
  ],
  "type": "nucleotide"
}