{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398610499",
  "communityStandardTitle": [
    "NM_016239.4(MYO15A):c.6614C>A (p.Thr2205Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18051447C>A?assembly=hg19",
        "id": "chr17:g.18051447C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18148133C>A?assembly=hg38",
        "id": "chr17:g.18148133C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908970",
        "rs": 121908970
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18051447-C-A?dataset=gnomad_r2_1",
        "id": "17-18051447-C-A",
        "variant": "17:18051447 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18148133-C-A?dataset=gnomad_r3",
        "id": "17-18148133-C-A",
        "variant": "17:18148133 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18148133-C-A?dataset=gnomad_r4",
        "id": "17-18148133-C-A",
        "variant": "17:18148133 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 18148133,
          "referenceAllele": "C",
          "start": 18148132
        }
      ],
      "hgvs": [
        "NC_000017.11:g.18148133C>A",
        "CM000679.2:g.18148133C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 18051447,
          "referenceAllele": "C",
          "start": 18051446
        }
      ],
      "hgvs": [
        "NC_000017.10:g.18051447C>A",
        "CM000679.1:g.18051447C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17992172,
          "referenceAllele": "C",
          "start": 17992171
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17992172C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44428,
          "referenceAllele": "C",
          "start": 44427
        }
      ],
      "hgvs": [
        "NG_011634.1:g.44428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44428,
          "referenceAllele": "C",
          "start": 44427
        }
      ],
      "hgvs": [
        "NG_011634.2:g.44428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6902,
          "referenceAllele": "C",
          "start": 6901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000647165.2:c.6614C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495481.1:p.Thr2205Asn",
        "hgvsWellDefined": "ENSP00000495481.1:p.Thr2205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.6614C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.6614C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Thr2205Asn"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Thr2205Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6952,
          "referenceAllele": "C",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000205890.9:c.6614C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205890.5:p.Thr2205Asn",
        "hgvsWellDefined": "ENSP00000205890.5:p.Thr2205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000578999.1:n.199C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6952,
          "referenceAllele": "C",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000615845.4:c.6614C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481642.1:p.Thr2205Asn",
        "hgvsWellDefined": "ENSP00000481642.1:p.Thr2205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083974284",
      "coordinates": [
        {
          "allele": "A",
          "end": 6952,
          "referenceAllele": "C",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.3:c.6614C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Thr2205Asn",
        "hgvsWellDefined": "NP_057323.3:p.Thr2205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523917.1:c.6554C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522219.1:p.Thr2185Asn",
        "hgvsWellDefined": "XP_011522219.1:p.Thr2185Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7106,
          "referenceAllele": "C",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523918.1:c.*93C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522220.1:n.*93C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7248,
          "referenceAllele": "C",
          "start": 7247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523921.1:c.6608C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522223.1:p.Thr2203Asn",
        "hgvsWellDefined": "XP_011522223.1:p.Thr2203Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934037.1:n.7213C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934038.1:n.7213C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 526,
          "referenceAllele": "G",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 527
        }
      ],
      "hgvs": [
        "XR_934293.1:n.435-527G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 526,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 527
        }
      ],
      "hgvs": [
        "XR_934295.1:n.254-527G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7252,
          "referenceAllele": "C",
          "start": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024714.2:c.6554C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880203.1:p.Thr2185Asn",
        "hgvsWellDefined": "XP_016880203.1:p.Thr2185Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7315,
          "referenceAllele": "C",
          "start": 7314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024715.2:c.6617C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880204.1:p.Thr2206Asn",
        "hgvsWellDefined": "XP_016880204.1:p.Thr2206Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 526,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 527
        }
      ],
      "hgvs": [
        "XR_934293.2:n.378-527G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083974284",
      "coordinates": [
        {
          "allele": "A",
          "end": 6902,
          "referenceAllele": "C",
          "start": 6901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.4:c.6614C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Thr2205Asn",
        "hgvsWellDefined": "NP_057323.3:p.Thr2205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.6614C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.6614C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Thr2205Asn"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Thr2205Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}