{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130784",
  "communityStandardTitle": [
    "NM_000693.4(ALDH1A3):c.1477G>C (p.Ala493Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48691[alleleid]",
        "alleleId": 48691,
        "preferredName": "NM_000693.4(ALDH1A3):c.1477G>C (p.Ala493Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40204",
        "RCV": [
          "RCV000033222"
        ],
        "variationId": 40204
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.101454916G>C?assembly=hg19",
        "id": "chr15:g.101454916G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.100914711G>C?assembly=hg38",
        "id": "chr15:g.100914711G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514653",
        "rs": 397514653
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 100914711,
          "referenceAllele": "G",
          "start": 100914710
        }
      ],
      "hgvs": [
        "NC_000015.10:g.100914711G>C",
        "CM000677.2:g.100914711G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 101454916,
          "referenceAllele": "G",
          "start": 101454915
        }
      ],
      "hgvs": [
        "NC_000015.9:g.101454916G>C",
        "CM000677.1:g.101454916G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 99272439,
          "referenceAllele": "G",
          "start": 99272438
        }
      ],
      "hgvs": [
        "NC_000015.8:g.99272439G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39908,
          "referenceAllele": "G",
          "start": 39907
        }
      ],
      "hgvs": [
        "NG_012254.1:g.39908G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "hgvs": [
        "NG_052791.1:g.695G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "ENST00000329841.10:c.1477G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332256.5:p.Ala493Pro",
        "hgvsWellDefined": "ENSP00000332256.5:p.Ala493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747022",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000329841.10:c.1477G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000693.4:c.1477G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332256.5:p.Ala493Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000684.2:p.Ala493Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "ENST00000329841.9:c.1477G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332256.5:p.Ala493Pro",
        "hgvsWellDefined": "ENSP00000332256.5:p.Ala493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "ENST00000346623.6:c.1156G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343294.6:p.Ala386Pro",
        "hgvsWellDefined": "ENSP00000343294.6:p.Ala386Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "NM_000693.3:c.1477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000684.2:p.Ala493Pro",
        "hgvsWellDefined": "NP_000684.2:p.Ala493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837661",
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "NM_001293815.1:c.1156G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280744.1:p.Ala386Pro",
        "hgvsWellDefined": "NP_001280744.1:p.Ala386Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "endIntronDirection": "+",
          "endIntronOffset": 4093,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "+",
          "startIntronOffset": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055416",
      "geneNCBI_id": 101927751,
      "geneSymbol": "ALDH1A3-AS1",
      "hgvs": [
        "NR_135827.1:n.480+4093C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055416",
      "geneNCBI_id": 101927751,
      "geneSymbol": "ALDH1A3-AS1",
      "hgvs": [
        "NR_135828.1:n.1750C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2666,
          "referenceAllele": "C",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055416",
      "geneNCBI_id": 101927751,
      "geneSymbol": "ALDH1A3-AS1",
      "hgvs": [
        "NR_135831.1:n.2666C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "NM_000693.4:c.1477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000684.2:p.Ala493Pro",
        "hgvsWellDefined": "NP_000684.2:p.Ala493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662538",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000329841.10:c.1477G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000693.4:c.1477G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332256.5:p.Ala493Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000684.2:p.Ala493Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837661",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000409",
      "geneNCBI_id": 220,
      "geneSymbol": "ALDH1A3",
      "hgvs": [
        "NM_001293815.2:c.1156G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280744.1:p.Ala386Pro",
        "hgvsWellDefined": "NP_001280744.1:p.Ala386Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683010"
    }
  ],
  "type": "nucleotide"
}