{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8699363",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.1038G>C (p.Ser346=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=704275[alleleid]",
        "alleleId": 704275,
        "preferredName": "NM_000789.4(ACE):c.1038G>C (p.Ser346=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/778721",
        "RCV": [
          "RCV000959423",
          "RCV001126046",
          "RCV002479108"
        ],
        "variationId": 778721
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-61559019-G-C",
        "id": "17-61559019-G-C",
        "variant": "17:61559019 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61559019G>C?assembly=hg19",
        "id": "chr17:g.61559019G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63481658G>C?assembly=hg38",
        "id": "chr17:g.63481658G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34680431",
        "rs": 34680431
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61559019-G-C?dataset=gnomad_r2_1",
        "id": "17-61559019-G-C",
        "variant": "17:61559019 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63481658-G-C?dataset=gnomad_r3",
        "id": "17-63481658-G-C",
        "variant": "17:63481658 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63481658-G-C?dataset=gnomad_r4",
        "id": "17-63481658-G-C",
        "variant": "17:63481658 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 63481658,
          "referenceAllele": "G",
          "start": 63481657
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63481658G>C",
        "CM000679.2:g.63481658G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 61559019,
          "referenceAllele": "G",
          "start": 61559018
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61559019G>C",
        "CM000679.1:g.61559019G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 58912751,
          "referenceAllele": "G",
          "start": 58912750
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58912751G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9586,
          "referenceAllele": "G",
          "start": 9585
        }
      ],
      "hgvs": [
        "NG_011648.1:g.9586G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Ser346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1038G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1038G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Ser346="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Ser346="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Ser346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:p.Ser346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582678.5:c.*437G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462995.1:n.*437G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000584529.5:n.1072G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825216324",
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Ser346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.489G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:p.Ser163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825216324",
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Ser346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1038G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1038G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Ser346="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Ser346="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 470,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.472+470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:n.472+470G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.186G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:p.Ser62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    }
  ],
  "type": "nucleotide"
}