{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406041703",
  "communityStandardTitle": [
    "NM_152296.5(ATP1A3):c.2232C>G (p.Asn744Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42479812G>C?assembly=hg19",
        "id": "chr19:g.42479812G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41975660G>C?assembly=hg38",
        "id": "chr19:g.41975660G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41975660,
          "referenceAllele": "G",
          "start": 41975659
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41975660G>C",
        "CM000681.2:g.41975660G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 42479812,
          "referenceAllele": "G",
          "start": 42479811
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42479812G>C",
        "CM000681.1:g.42479812G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 47171652,
          "referenceAllele": "G",
          "start": 47171651
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47171652G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23571,
          "referenceAllele": "C",
          "start": 23570
        }
      ],
      "hgvs": [
        "NG_008015.1:g.23571C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000775"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.6:c.2271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Asn757Lys",
        "hgvsWellDefined": "ENSP00000444688.1:p.Asn757Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "hgvs": [
        "ENST00000644613.1:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494711.1:p.Asn744Lys",
        "hgvsWellDefined": "ENSP00000494711.1:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000648268.1:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498113.1:p.Asn744Lys",
        "hgvsWellDefined": "ENSP00000498113.1:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2232C>G"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2232C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Asn744Lys"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Asn744Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000302102.9:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302397.5:p.Asn744Lys",
        "hgvsWellDefined": "ENSP00000302397.5:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2370,
          "referenceAllele": "C",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000441343.5:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411503.1:p.Asn744Lys",
        "hgvsWellDefined": "ENSP00000411503.1:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "referenceAllele": "C",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000543770.5:c.2265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437577.1:p.Asn755Lys",
        "hgvsWellDefined": "ENSP00000437577.1:p.Asn755Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.5:c.2271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Asn757Lys",
        "hgvsWellDefined": "ENSP00000444688.1:p.Asn757Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000602133.5:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471581.1:p.Asn714Lys",
        "hgvsWellDefined": "ENSP00000471581.1:p.Asn714Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377183",
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "referenceAllele": "C",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.1:c.2265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Asn755Lys",
        "hgvsWellDefined": "NP_001243142.1:p.Asn755Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580180315",
      "coordinates": [
        {
          "allele": "G",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.1:c.2271C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Asn757Lys",
        "hgvsWellDefined": "NP_001243143.1:p.Asn757Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295444",
      "coordinates": [
        {
          "allele": "G",
          "end": 2432,
          "referenceAllele": "C",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Asn744Lys",
        "hgvsWellDefined": "NP_689509.1:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.2142C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Asn714Lys",
        "hgvsWellDefined": "XP_011525293.1:p.Asn714Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295444",
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.2232C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Asn744Lys",
        "hgvsWellDefined": "NP_689509.1:p.Asn744Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2232C>G"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2232C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Asn744Lys"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Asn744Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580180315",
      "coordinates": [
        {
          "allele": "G",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.2271C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Asn757Lys",
        "hgvsWellDefined": "NP_001243143.1:p.Asn757Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377183",
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "referenceAllele": "C",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.2265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Asn755Lys",
        "hgvsWellDefined": "NP_001243142.1:p.Asn755Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}