{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254872",
  "communityStandardTitle": [
    "NM_003140.3(SRY):c.320G>A (p.Trp107Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24784[alleleid]",
        "alleleId": 24784,
        "preferredName": "NM_003140.3(SRY):c.320G>A (p.Trp107Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9745",
        "RCV": [
          "RCV000010399"
        ],
        "variationId": 9745
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.2655325C>T?assembly=hg19",
        "id": "chrY:g.2655325C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.2787284C>T?assembly=hg38",
        "id": "chrY:g.2787284C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894967",
        "rs": 104894967
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2787284,
          "referenceAllele": "C",
          "start": 2787283
        }
      ],
      "hgvs": [
        "NC_000024.10:g.2787284C>T",
        "CM000686.2:g.2787284C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2655325,
          "referenceAllele": "C",
          "start": 2655324
        }
      ],
      "hgvs": [
        "NC_000024.9:g.2655325C>T",
        "CM000686.1:g.2655325C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2715325,
          "referenceAllele": "C",
          "start": 2715324
        }
      ],
      "hgvs": [
        "NC_000024.8:g.2715325C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5468,
          "referenceAllele": "G",
          "start": 5467
        }
      ],
      "hgvs": [
        "NG_011751.1:g.5468G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12545,
          "referenceAllele": "C",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12544
        }
      ],
      "hgvs": [
        "ENST00000679518.1:n.106+12545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "hgvs": [
        "ENST00000679825.1:n.396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 2464,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2465
        }
      ],
      "hgvs": [
        "ENST00000680285.1:n.320-2465C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "C",
          "start": 165,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "hgvs": [
        "ENST00000680845.1:n.166-196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12545,
          "referenceAllele": "C",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12544
        }
      ],
      "hgvs": [
        "ENST00000681787.1:n.106+12545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12545,
          "referenceAllele": "C",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12544
        }
      ],
      "hgvs": [
        "ENST00000681940.1:n.106+12545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "ENST00000383070.2:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372547.1:p.Trp107Ter",
        "hgvsWellDefined": "ENSP00000372547.1:p.Trp107_Leu204delinsProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383070.2:c.320G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003140.3:c.320G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372547.1:p.Trp107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003131.1:p.Trp107Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "ENST00000383070.1:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372547.1:p.Trp107Ter",
        "hgvsWellDefined": "ENSP00000372547.1:p.Trp107_Leu204delinsProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254873",
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NM_003140.2:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003131.1:p.Trp107Ter",
        "hgvsWellDefined": "NP_003131.1:p.Trp107_Leu204delinsProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254873",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NM_003140.3:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003131.1:p.Trp107Ter",
        "hgvsWellDefined": "NP_003131.1:p.Trp107_Leu204delinsProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383070.2:c.320G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003140.3:c.320G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372547.1:p.Trp107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003131.1:p.Trp107Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}