{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10458178", "communityStandardTitle": [ "NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1125500", "active": true, "id": "COSM1125500" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1125501", "active": true, "id": "COSM1125501" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2002538[alleleid]", "alleleId": 2002538, "preferredName": "NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1946260", "RCV": [ "RCV002658775" ], "variationId": 1946260 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-76939109-C-T", "id": "X-76939109-C-T", "variant": "X:76939109 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.76939109C>T?assembly=hg19", "id": "chrX:g.76939109C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77683617C>T?assembly=hg38", "id": "chrX:g.77683617C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/782760045", "rs": 782760045 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-76939109-C-T?dataset=gnomad_r2_1", "id": "X-76939109-C-T", "variant": "X:76939109 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-77683617-C-T?dataset=gnomad_r4", "id": "X-77683617-C-T", "variant": "X:77683617 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77683617, "referenceAllele": "C", "start": 77683616 } ], "hgvs": [ "NC_000023.11:g.77683617C>T", "CM000685.2:g.77683617C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76939109, "referenceAllele": "C", "start": 76939108 } ], "hgvs": [ "NC_000023.10:g.76939109C>T", "CM000685.1:g.76939109C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76825765, "referenceAllele": "C", "start": 76825764 } ], "hgvs": [ "NC_000023.9:g.76825765C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 107605, "referenceAllele": "G", "start": 107604 } ], "hgvs": [ "NG_008838.2:g.107605G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001233" }, { "coordinates": [ { "allele": "A", "end": 107653, "referenceAllele": "G", "start": 107652 } ], "hgvs": [ "NG_008838.3:g.107653G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.11:c.1639G>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Asp547Asn", "hgvsWellDefined": "ENSP00000362441.4:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS751211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.1639G>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.1639G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Asp547Asn" }, "RefSeq": { "hgvs": "NP_000480.3:p.Asp547Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.9:c.1639G>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Asp547Asn", "hgvsWellDefined": "ENSP00000362441.4:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS269638" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000395603.7:c.1525G>A" ], "proteinEffect": { "hgvs": "ENSP00000378967.3:p.Asp509Asn", "hgvsWellDefined": "ENSP00000378967.3:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS276784" }, { "coordinates": [ { "allele": "A", "end": 1977, "referenceAllele": "G", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000480283.5:c.*1267G>A" ], "proteinEffect": { "hgvs": "ENSP00000480196.1:n.*1267G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS320467" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000623321.3:c.1474G>A" ], "proteinEffect": { "hgvs": "ENSP00000485127.1:p.Asp492Asn", "hgvsWellDefined": "ENSP00000485127.1:p.Asp492Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS406049" }, { "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000624032.3:c.1639G>A" ], "proteinEffect": { "hgvs": "ENSP00000485253.1:p.Asp547Asn", "hgvsWellDefined": "ENSP00000485253.1:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS406233" }, { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "G", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000624166.3:c.1522G>A" ], "proteinEffect": { "hgvs": "ENSP00000485103.1:p.Asp508Asn", "hgvsWellDefined": "ENSP00000485103.1:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS406266" }, { "@id": "http://reg.genome.network/allele/PA2580119013", "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.4:c.1639G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Asp547Asn", "hgvsWellDefined": "NP_000480.3:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006543" }, { "@id": "http://reg.genome.network/allele/PA2830249033", "coordinates": [ { "allele": "A", "end": 1793, "referenceAllele": "G", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.3:c.1525G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Asp509Asn", "hgvsWellDefined": "NP_612114.2:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS040611" }, { "coordinates": [ { "allele": "A", "end": 1904, "referenceAllele": "G", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.3:c.1636G>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Asp546Asn", "hgvsWellDefined": "XP_005262210.2:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS063345" }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.3:c.1639G>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Asp547Asn", "hgvsWellDefined": "XP_005262211.2:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS063346" }, { "coordinates": [ { "allele": "A", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.3:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Asp508Asn", "hgvsWellDefined": "XP_005262212.2:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS063347" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "G", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.3:c.1474G>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Asp492Asn", "hgvsWellDefined": "XP_005262213.2:p.Asp492Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS063348" }, { "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "G", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.3:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Asp508Asn", "hgvsWellDefined": "XP_005262214.2:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS063349" }, { "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "G", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.2:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Asp508Asn", "hgvsWellDefined": "XP_006724729.1:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075648" }, { "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.2:c.1360G>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Asp454Asn", "hgvsWellDefined": "XP_006724730.1:p.Asp454Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075649" }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.2:c.1639G>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Asp547Asn", "hgvsWellDefined": "XP_006724731.1:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075650" }, { "coordinates": [ { "allele": "A", "end": 1907, "referenceAllele": "G", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_938400.1:n.1907G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133098" }, { "@id": "http://reg.genome.network/allele/PA2580119013", "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.5:c.1639G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Asp547Asn", "hgvsWellDefined": "NP_000480.3:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS510800" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "G", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.5:c.1636G>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Asp546Asn", "hgvsWellDefined": "XP_005262210.2:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS535419" }, { "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.5:c.1639G>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Asp547Asn", "hgvsWellDefined": "XP_005262211.2:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS535420" }, { "coordinates": [ { "allele": "A", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.4:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Asp508Asn", "hgvsWellDefined": "XP_005262212.2:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS535421" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.4:c.1474G>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Asp492Asn", "hgvsWellDefined": "XP_005262213.2:p.Asp492Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS535422" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.5:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Asp508Asn", "hgvsWellDefined": "XP_005262214.2:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS535423" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.4:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Asp508Asn", "hgvsWellDefined": "XP_006724729.1:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS541034" }, { "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "G", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.3:c.1360G>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Asp454Asn", "hgvsWellDefined": "XP_006724730.1:p.Asp454Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS541035" }, { "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.3:c.1639G>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Asp547Asn", "hgvsWellDefined": "XP_006724731.1:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS541036" }, { "coordinates": [ { "allele": "A", "end": 1861, "referenceAllele": "G", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029601.2:c.1636G>A" ], "proteinEffect": { "hgvs": "XP_016885090.1:p.Asp546Asn", "hgvsWellDefined": "XP_016885090.1:p.Asp546Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579117" }, { "coordinates": [ { "allele": "A", "end": 1988, "referenceAllele": "G", "start": 1987 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029602.1:c.1519G>A" ], "proteinEffect": { "hgvs": "XP_016885091.1:p.Asp507Asn", "hgvsWellDefined": "XP_016885091.1:p.Asp507Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579118" }, { "coordinates": [ { "allele": "A", "end": 1757, "referenceAllele": "G", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029603.1:c.1471G>A" ], "proteinEffect": { "hgvs": "XP_016885092.1:p.Asp491Asn", "hgvsWellDefined": "XP_016885092.1:p.Asp491Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579119" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029604.2:c.1525G>A" ], "proteinEffect": { "hgvs": "XP_016885093.1:p.Asp509Asn", "hgvsWellDefined": "XP_016885093.1:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579120" }, { "coordinates": [ { "allele": "A", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029605.1:c.1522G>A" ], "proteinEffect": { "hgvs": "XP_016885094.1:p.Asp508Asn", "hgvsWellDefined": "XP_016885094.1:p.Asp508Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579121" }, { "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "G", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029606.2:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_016885095.1:p.Asp470Asn", "hgvsWellDefined": "XP_016885095.1:p.Asp470Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579122" }, { "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "G", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029607.2:c.1405G>A" ], "proteinEffect": { "hgvs": "XP_016885096.1:p.Asp469Asn", "hgvsWellDefined": "XP_016885096.1:p.Asp469Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579123" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029608.2:c.1357G>A" ], "proteinEffect": { "hgvs": "XP_016885097.1:p.Asp453Asn", "hgvsWellDefined": "XP_016885097.1:p.Asp453Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579124" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "G", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029609.1:c.1408G>A" ], "proteinEffect": { "hgvs": "XP_016885098.1:p.Asp470Asn", "hgvsWellDefined": "XP_016885098.1:p.Asp470Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579125" }, { "coordinates": [ { "allele": "A", "end": 1891, "referenceAllele": "G", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029610.1:c.1405G>A" ], "proteinEffect": { "hgvs": "XP_016885099.1:p.Asp469Asn", "hgvsWellDefined": "XP_016885099.1:p.Asp469Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579126" }, { "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "G", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029611.1:c.1360G>A" ], "proteinEffect": { "hgvs": "XP_016885100.1:p.Asp454Asn", "hgvsWellDefined": "XP_016885100.1:p.Asp454Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS579127" }, { "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_001755700.2:n.1864G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601333" }, { "@id": "http://reg.genome.network/allele/PA2830249033", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.4:c.1525G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Asp509Asn", "hgvsWellDefined": "NP_612114.2:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS699696" }, { "@id": "http://reg.genome.network/allele/PA2580119013", "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.6:c.1639G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Asp547Asn", "hgvsWellDefined": "NP_000480.3:p.Asp547Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS710838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.1639G>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.1639G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Asp547Asn" }, "RefSeq": { "hgvs": "NP_000480.3:p.Asp547Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2830249033", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.5:c.1525G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Asp509Asn", "hgvsWellDefined": "NP_612114.2:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS729130" } ], "type": "nucleotide" }