{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254881",
  "communityStandardTitle": [
    "NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24790[alleleid]",
        "alleleId": 24790,
        "preferredName": "NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9751",
        "RCV": [
          "RCV000010405"
        ],
        "variationId": 9751
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.2655633A>T?assembly=hg19",
        "id": "chrY:g.2655633A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.2787592A>T?assembly=hg38",
        "id": "chrY:g.2787592A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894975",
        "rs": 104894975
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2787592,
          "referenceAllele": "A",
          "start": 2787591
        }
      ],
      "hgvs": [
        "NC_000024.10:g.2787592A>T",
        "CM000686.2:g.2787592A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2655633,
          "referenceAllele": "A",
          "start": 2655632
        }
      ],
      "hgvs": [
        "NC_000024.9:g.2655633A>T",
        "CM000686.1:g.2655633A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 2715633,
          "referenceAllele": "A",
          "start": 2715632
        }
      ],
      "hgvs": [
        "NC_000024.8:g.2715633A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5160,
          "referenceAllele": "T",
          "start": 5159
        }
      ],
      "hgvs": [
        "NG_011751.1:g.5160T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12853,
          "referenceAllele": "A",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12852
        }
      ],
      "hgvs": [
        "ENST00000679518.1:n.106+12853A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 2156,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2157
        }
      ],
      "hgvs": [
        "ENST00000680285.1:n.320-2157A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "A",
          "start": 277
        }
      ],
      "hgvs": [
        "ENST00000680845.1:n.278A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12853,
          "referenceAllele": "A",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12852
        }
      ],
      "hgvs": [
        "ENST00000681787.1:n.106+12853A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 12853,
          "referenceAllele": "A",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 12852
        }
      ],
      "hgvs": [
        "ENST00000681940.1:n.106+12853A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "T",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "ENST00000383070.2:c.12T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372547.1:p.Tyr4Ter",
        "hgvsWellDefined": "ENSP00000372547.1:p.Tyr4_Leu204delinsAlaSerAlaMetLeuSerValPheAsnSerAspAspTyrSerProAlaValGlnGluAsnIleProAlaLeuArgArgSerSerSerPheLeuCysThrGluSerCysAsnSerLysTyrGlnCysGluThrGlyGluAsnSerLysGlyAsnValGlnAspArgValLysArgProMetAsnAlaPheIleValTrpSerArgAspGlnArgArgLysMetAlaLeuGluAsnProArgMetArgAsnSerGluIleSerLysGlnLeuGlyTyrGlnTrpLysMetLeuThrGluAlaGluLysTrpProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383070.2:c.12T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003140.3:c.12T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372547.1:p.Tyr4Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003131.1:p.Tyr4Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108,
          "referenceAllele": "T",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "ENST00000383070.1:c.12T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372547.1:p.Tyr4Ter",
        "hgvsWellDefined": "ENSP00000372547.1:p.Tyr4_Leu204delinsAlaSerAlaMetLeuSerValPheAsnSerAspAspTyrSerProAlaValGlnGluAsnIleProAlaLeuArgArgSerSerSerPheLeuCysThrGluSerCysAsnSerLysTyrGlnCysGluThrGlyGluAsnSerLysGlyAsnValGlnAspArgValLysArgProMetAsnAlaPheIleValTrpSerArgAspGlnArgArgLysMetAlaLeuGluAsnProArgMetArgAsnSerGluIleSerLysGlnLeuGlyTyrGlnTrpLysMetLeuThrGluAlaGluLysTrpProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254882",
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "T",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NM_003140.2:c.12T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003131.1:p.Tyr4Ter",
        "hgvsWellDefined": "NP_003131.1:p.Tyr4_Leu204delinsAlaSerAlaMetLeuSerValPheAsnSerAspAspTyrSerProAlaValGlnGluAsnIleProAlaLeuArgArgSerSerSerPheLeuCysThrGluSerCysAsnSerLysTyrGlnCysGluThrGlyGluAsnSerLysGlyAsnValGlnAspArgValLysArgProMetAsnAlaPheIleValTrpSerArgAspGlnArgArgLysMetAlaLeuGluAsnProArgMetArgAsnSerGluIleSerLysGlnLeuGlyTyrGlnTrpLysMetLeuThrGluAlaGluLysTrpProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254882",
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "referenceAllele": "T",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NM_003140.3:c.12T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003131.1:p.Tyr4Ter",
        "hgvsWellDefined": "NP_003131.1:p.Tyr4_Leu204delinsAlaSerAlaMetLeuSerValPheAsnSerAspAspTyrSerProAlaValGlnGluAsnIleProAlaLeuArgArgSerSerSerPheLeuCysThrGluSerCysAsnSerLysTyrGlnCysGluThrGlyGluAsnSerLysGlyAsnValGlnAspArgValLysArgProMetAsnAlaPheIleValTrpSerArgAspGlnArgArgLysMetAlaLeuGluAsnProArgMetArgAsnSerGluIleSerLysGlnLeuGlyTyrGlnTrpLysMetLeuThrGluAlaGluLysTrpProPhePheGlnGluAlaGlnLysLeuGlnAlaMetHisArgGluLysTyrProAsnTyrLysTyrArgProArgArgLysAlaLysMetLeuProLysAsnCysSerLeuLeuProAlaAspProAlaSerValLeuCysSerGluValGlnLeuAspAsnArgLeuTyrArgAspAspCysThrLysAlaThrHisSerArgMetGluHisGlnLeuGlyHisLeuProProIleAsnAlaAlaSerSerProGlnGlnArgAspArgTyrSerHisTrpThrLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383070.2:c.12T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003140.3:c.12T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372547.1:p.Tyr4Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003131.1:p.Tyr4Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}