{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373667626",
  "communityStandardTitle": [
    "NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2417580[alleleid]",
        "alleleId": 2417580,
        "preferredName": "NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2443844",
        "RCV": [
          "RCV003152452"
        ],
        "variationId": 2443844
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.75420358G>A?assembly=hg19",
        "id": "chr9:g.75420358G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.72805442G>A?assembly=hg38",
        "id": "chr9:g.72805442G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2489958072",
        "rs": 2489958072
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 72805442,
          "referenceAllele": "G",
          "start": 72805441
        }
      ],
      "hgvs": [
        "NC_000009.12:g.72805442G>A",
        "CM000671.2:g.72805442G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 75420358,
          "referenceAllele": "G",
          "start": 75420357
        }
      ],
      "hgvs": [
        "NC_000009.11:g.75420358G>A",
        "CM000671.1:g.75420358G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 74610178,
          "referenceAllele": "G",
          "start": 74610177
        }
      ],
      "hgvs": [
        "NC_000009.10:g.74610178G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288642,
          "referenceAllele": "G",
          "start": 288641
        }
      ],
      "hgvs": [
        "NG_008213.1:g.288642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000954"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000297784.10:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297784.6:p.Asp543Asn",
        "hgvsWellDefined": "ENSP00000297784.6:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297784.10:c.1627G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138691.3:c.1627G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297784.6:p.Asp543Asn"
          },
          "RefSeq": {
            "hgvs": "NP_619636.2:p.Asp543Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000644967.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496159.1:p.Asp397Asn",
        "hgvsWellDefined": "ENSP00000496159.1:p.Asp397Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000645053.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493838.1:p.Asp397Asn",
        "hgvsWellDefined": "ENSP00000493838.1:p.Asp397Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000645208.2:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494684.1:p.Asp543Asn",
        "hgvsWellDefined": "ENSP00000494684.1:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1891,
          "referenceAllele": "G",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000645773.1:c.1501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493698.1:p.Asp501Asn",
        "hgvsWellDefined": "ENSP00000493698.1:p.Asp501Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000645787.1:n.1770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000646619.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493726.1:p.Asp397Asn",
        "hgvsWellDefined": "ENSP00000493726.1:p.Asp397Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000651183.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498723.1:p.Asp397Asn",
        "hgvsWellDefined": "ENSP00000498723.1:p.Asp397Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000297784.9:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297784.5:p.Asp543Asn",
        "hgvsWellDefined": "ENSP00000297784.5:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "G",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000340019.4:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341433.3:p.Asp543Asn",
        "hgvsWellDefined": "ENSP00000341433.3:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "ENST00000486417.5:n.251G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580500706",
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "NM_138691.2:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619636.2:p.Asp543Asn",
        "hgvsWellDefined": "NP_619636.2:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "XM_011518213.1:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516515.1:p.Asp739Asn",
        "hgvsWellDefined": "XP_011516515.1:p.Asp739Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "XM_017014256.1:c.1630G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869745.1:p.Asp544Asn",
        "hgvsWellDefined": "XP_016869745.1:p.Asp544Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580500706",
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016513",
      "geneNCBI_id": 117531,
      "geneSymbol": "TMC1",
      "hgvs": [
        "NM_138691.3:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619636.2:p.Asp543Asn",
        "hgvsWellDefined": "NP_619636.2:p.Asp543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699766",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297784.10:c.1627G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138691.3:c.1627G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297784.6:p.Asp543Asn"
          },
          "RefSeq": {
            "hgvs": "NP_619636.2:p.Asp543Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}