{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250161",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71097[alleleid]",
        "alleleId": 71097,
        "preferredName": "NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56458",
        "RCV": [
          "RCV000049871"
        ],
        "variationId": 56458
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36335273G>T?assembly=hg19",
        "id": "chr19:g.36335273G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35844371G>T?assembly=hg38",
        "id": "chr19:g.35844371G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/191807913",
        "rs": 191807913
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 35844371,
          "referenceAllele": "G",
          "start": 35844370
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35844371G>T",
        "CM000681.2:g.35844371G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 36335273,
          "referenceAllele": "G",
          "start": 36335272
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36335273G>T",
        "CM000681.1:g.36335273G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41027113,
          "referenceAllele": "G",
          "start": 41027112
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41027113G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29917,
          "referenceAllele": "C",
          "start": 29916
        }
      ],
      "hgvs": [
        "NG_013356.2:g.29917C>A",
        "LRG_693:g.29917C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.2019C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Asn673Lys",
        "hgvsWellDefined": "ENSP00000368190.4:p.Asn673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.2019C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.2019C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Asn673Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Asn673Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.2019C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Asn673Lys",
        "hgvsWellDefined": "ENSP00000343634.5:p.Asn673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.2019C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Asn673Lys",
        "hgvsWellDefined": "ENSP00000368190.4:p.Asn673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000585400.1:n.201C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096838",
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.2019C>A",
        "LRG_693t1:c.2019C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Asn673Lys",
        "hgvsWellDefined": "NP_004637.1:p.Asn673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096838",
      "coordinates": [
        {
          "allele": "A",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.2019C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Asn673Lys",
        "hgvsWellDefined": "NP_004637.1:p.Asn673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.2019C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.2019C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Asn673Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Asn673Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}