{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3173975440", "communityStandardTitle": [ "NM_000195.5(HPS1):c.1323A= (p.Ala441=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/281865085", "rs": 281865085 }, { "@id": "http://www.ncbi.nlm.nih.gov/snp/2538832775", "rs": 2538832775 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 98425553, "referenceAllele": "T", "start": 98425552 } ], "hgvs": [ "NC_000010.11:g.98425553T=", "CM000672.2:g.98425553T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 100185310, "referenceAllele": "T", "start": 100185309 } ], "hgvs": [ "NC_000010.10:g.100185310T=", "CM000672.1:g.100185310T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 100175300, "referenceAllele": "T", "start": 100175299 } ], "hgvs": [ "NC_000010.9:g.100175300T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 26395, "referenceAllele": "A", "start": 26394 } ], "hgvs": [ "NG_009646.1:g.26395A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001627" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699112.1:c.963A=" ], "proteinEffect": { "hgvs": "ENSP00000514137.1:p.Ala321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910054" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "A", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699113.1:c.*701A=" ], "proteinEffect": { "hgvs": "ENSP00000514138.1:n.*701A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910055" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "A", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699114.1:n.1210A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910056" }, { "coordinates": [ { "allele": "A", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699115.1:c.1056A=" ], "proteinEffect": { "hgvs": "ENSP00000514139.1:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910057" }, { "coordinates": [ { "allele": "A", "end": 3282, "referenceAllele": "A", "start": 3281 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699116.1:n.3282A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910058" }, { "coordinates": [ { "allele": "A", "end": 1975, "referenceAllele": "A", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699117.1:n.1975A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910059" }, { "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699118.1:c.936A=" ], "proteinEffect": { "hgvs": "ENSP00000514140.1:p.Ala312=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910060" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "A", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699119.1:c.*514A=" ], "proteinEffect": { "hgvs": "ENSP00000514141.1:n.*514A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910061" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "A", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699120.1:c.*781A=" ], "proteinEffect": { "hgvs": "ENSP00000514142.1:n.*781A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910062" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "A", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699121.1:c.*682A=" ], "proteinEffect": { "hgvs": "ENSP00000514143.1:n.*682A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910063" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699122.1:c.750A=" ], "proteinEffect": { "hgvs": "ENSP00000514144.1:p.Ala250=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910064" }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "A", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699123.1:c.*1091A=" ], "proteinEffect": { "hgvs": "ENSP00000514145.1:n.*1091A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910065" }, { "coordinates": [ { "allele": "A", "end": 2642, "referenceAllele": "A", "start": 2641 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699124.1:n.2642A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910066" }, { "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "A", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699125.1:c.1353A=" ], "proteinEffect": { "hgvs": "ENSP00000514146.1:p.Ala451=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910067" }, { "coordinates": [ { "allele": "A", "end": 2795, "referenceAllele": "A", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699126.1:n.2795A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910068" }, { "coordinates": [ { "allele": "A", "end": 1566, "referenceAllele": "A", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699127.1:n.1566A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910069" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699128.1:c.*462A=" ], "proteinEffect": { "hgvs": "ENSP00000514147.1:n.*462A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910070" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699129.1:c.*462A=" ], "proteinEffect": { "hgvs": "ENSP00000514148.1:n.*462A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910071" }, { "coordinates": [ { "allele": "A", "end": 2696, "referenceAllele": "A", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699130.1:n.2696A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910072" }, { "coordinates": [ { "allele": "A", "end": 1398, "referenceAllele": "A", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699131.1:c.1155A=" ], "proteinEffect": { "hgvs": "ENSP00000514149.1:p.Ala385=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910073" }, { "coordinates": [ { "allele": "A", "end": 3618, "referenceAllele": "A", "start": 3617 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699132.1:n.3618A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910074" }, { "coordinates": [ { "allele": "A", "end": 1299, "referenceAllele": "A", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699133.1:c.1056A=" ], "proteinEffect": { "hgvs": "ENSP00000514150.1:p.Ala352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910075" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "A", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699134.1:c.1581A=" ], "proteinEffect": { "hgvs": "ENSP00000514151.1:p.Ala527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910076" }, { "coordinates": [ { "allele": "A", "end": 1201, "referenceAllele": "A", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699135.1:c.*533A=" ], "proteinEffect": { "hgvs": "ENSP00000514152.1:n.*533A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910077" }, { "coordinates": [ { "allele": "A", "end": 1389, "referenceAllele": "A", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699136.1:c.1224A=" ], "proteinEffect": { "hgvs": "ENSP00000514153.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910078" }, { "coordinates": [ { "allele": "A", "end": 1185, "referenceAllele": "A", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699137.1:c.936A=" ], "proteinEffect": { "hgvs": "ENSP00000514154.1:p.Ala312=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910079" }, { "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699138.1:c.*781A=" ], "proteinEffect": { "hgvs": "ENSP00000514155.1:n.*781A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910080" }, { "coordinates": [ { "allele": "A", "end": 1317, "referenceAllele": "A", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699139.1:c.1062A=" ], "proteinEffect": { "hgvs": "ENSP00000514156.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910081" }, { "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "A", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699140.1:c.1224A=" ], "proteinEffect": { "hgvs": "ENSP00000514157.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910082" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "A", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699141.1:c.*781A=" ], "proteinEffect": { "hgvs": "ENSP00000514158.1:n.*781A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910083" }, { "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "A", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699142.1:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000514159.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910084" }, { "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699143.1:c.*682A=" ], "proteinEffect": { "hgvs": "ENSP00000514160.1:n.*682A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910085" }, { "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "A", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699144.1:c.*781A=" ], "proteinEffect": { "hgvs": "ENSP00000514161.1:n.*781A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910086" }, { "coordinates": [ { "allele": "A", "end": 1578, "referenceAllele": "A", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699145.1:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000514162.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910087" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699146.1:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000514164.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910088" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "A", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699147.1:c.*781A=" ], "proteinEffect": { "hgvs": "ENSP00000514165.1:n.*781A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910089" }, { "coordinates": [ { "allele": "A", "end": 2795, "referenceAllele": "A", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000699149.1:n.2795A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS910091" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "A", "start": 1494 } ], "hgvs": [ "ENST00000699159.1:c.*682A=" ], "proteinEffect": { "hgvs": "ENSP00000514167.1:n.*682A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910101" }, { "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "A", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000361490.9:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000355310.4:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361490.9:c.1323A=" }, "RefSeq": { "hgvs": "NM_000195.5:c.1323A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355310.4:p.Ala441=" }, "RefSeq": { "hgvs": "NP_000186.2:p.Ala441=" } } } }, { "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "A", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000325103.10:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000326649.6:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS258439" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "A", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000359632.7:c.708A=" ], "proteinEffect": { "hgvs": "ENSP00000352652.3:p.Ala236=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264853" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "A", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000361490.8:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000355310.4:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265505" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "A", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000467246.5:n.1462A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS310414" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "A", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000470095.5:n.540A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS312618" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000478087.5:n.701A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS318765" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "A", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000497527.1:n.454A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS333746" }, { "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "A", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "ENST00000613394.4:c.1323A=" ], "proteinEffect": { "hgvs": "ENSP00000477926.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS401722" }, { "@id": "http://reg.genome.network/allele/PA3076745109", "coordinates": [ { "allele": "A", "end": 1569, "referenceAllele": "A", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_000195.3:c.1323A=" ], "proteinEffect": { "hgvs": "NP_000186.2:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006258" }, { "@id": "http://reg.genome.network/allele/PA3076745109", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_000195.4:c.1323A=" ], "proteinEffect": { "hgvs": "NP_000186.2:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006259" }, { "coordinates": [ { "allele": "A", "end": 1538, "referenceAllele": "A", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001311345.1:c.351A=" ], "proteinEffect": { "hgvs": "NP_001298274.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026439" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269755.2:c.1323A=" ], "proteinEffect": { "hgvs": "XP_005269812.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066266" }, { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "A", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269756.2:c.1323A=" ], "proteinEffect": { "hgvs": "XP_005269813.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066267" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "A", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269757.3:c.1323A=" ], "proteinEffect": { "hgvs": "XP_005269814.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066268" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "A", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269758.1:c.1224A=" ], "proteinEffect": { "hgvs": "XP_005269815.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066269" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "A", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269759.1:c.954A=" ], "proteinEffect": { "hgvs": "XP_005269816.1:p.Ala318=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066270" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "A", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269760.3:c.351A=" ], "proteinEffect": { "hgvs": "XP_005269817.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066271" }, { "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "A", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269761.1:c.351A=" ], "proteinEffect": { "hgvs": "XP_005269818.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066272" }, { "coordinates": [ { "allele": "A", "end": 1331, "referenceAllele": "A", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_006717818.1:c.1062A=" ], "proteinEffect": { "hgvs": "XP_006717881.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072332" }, { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "A", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322476.1:c.1323A=" ], "proteinEffect": { "hgvs": "NP_001309405.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515048" }, { "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "A", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322477.1:c.1323A=" ], "proteinEffect": { "hgvs": "NP_001309406.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515049" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "A", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322478.1:c.1224A=" ], "proteinEffect": { "hgvs": "NP_001309407.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515050" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "A", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322479.1:c.1224A=" ], "proteinEffect": { "hgvs": "NP_001309408.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515051" }, { "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "A", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322480.1:c.1062A=" ], "proteinEffect": { "hgvs": "NP_001309409.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515052" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "A", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322481.1:c.1062A=" ], "proteinEffect": { "hgvs": "NP_001309410.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515053" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "A", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322482.1:c.963A=" ], "proteinEffect": { "hgvs": "NP_001309411.1:p.Ala321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515054" }, { "coordinates": [ { "allele": "A", "end": 1371, "referenceAllele": "A", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322483.1:c.954A=" ], "proteinEffect": { "hgvs": "NP_001309412.1:p.Ala318=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515055" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "A", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322484.1:c.954A=" ], "proteinEffect": { "hgvs": "NP_001309413.1:p.Ala318=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515056" }, { "coordinates": [ { "allele": "A", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322485.1:c.855A=" ], "proteinEffect": { "hgvs": "NP_001309414.1:p.Ala285=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515057" }, { "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "A", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322487.1:c.351A=" ], "proteinEffect": { "hgvs": "NP_001309416.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515058" }, { "coordinates": [ { "allele": "A", "end": 1395, "referenceAllele": "A", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322489.1:c.351A=" ], "proteinEffect": { "hgvs": "NP_001309418.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515059" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "A", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_005269757.4:c.1323A=" ], "proteinEffect": { "hgvs": "XP_005269814.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536815" }, { "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "A", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_017016170.1:c.963A=" ], "proteinEffect": { "hgvs": "XP_016871659.1:p.Ala321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS568678" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "A", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_017016171.2:c.855A=" ], "proteinEffect": { "hgvs": "XP_016871660.1:p.Ala285=" }, "referenceSequence": "http://reg.genome.network/refseq/RS568679" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "A", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_017016172.2:c.351A=" ], "proteinEffect": { "hgvs": "XP_016871661.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS568680" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "A", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_024447971.1:c.1353A=" ], "proteinEffect": { "hgvs": "XP_024303739.1:p.Ala451=" }, "referenceSequence": "http://reg.genome.network/refseq/RS581551" }, { "coordinates": [ { "allele": "A", "end": 1446, "referenceAllele": "A", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XM_024447972.1:c.351A=" ], "proteinEffect": { "hgvs": "XP_024303740.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS581552" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XR_001747098.1:n.1592A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595305" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XR_001747099.2:n.1592A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595306" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "A", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XR_001747100.2:n.1592A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595307" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "A", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "XR_001747101.2:n.1493A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595308" }, { "@id": "http://reg.genome.network/allele/PA3076745109", "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "A", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_000195.5:c.1323A=" ], "proteinEffect": { "hgvs": "NP_000186.2:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361490.9:c.1323A=" }, "RefSeq": { "hgvs": "NM_000195.5:c.1323A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355310.4:p.Ala441=" }, "RefSeq": { "hgvs": "NP_000186.2:p.Ala441=" } } } }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "A", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001311345.2:c.351A=" ], "proteinEffect": { "hgvs": "NP_001298274.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS717323" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "A", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322476.2:c.1323A=" ], "proteinEffect": { "hgvs": "NP_001309405.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718221" }, { "coordinates": [ { "allele": "A", "end": 1566, "referenceAllele": "A", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322477.2:c.1323A=" ], "proteinEffect": { "hgvs": "NP_001309406.1:p.Ala441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718222" }, { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "A", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322478.2:c.1224A=" ], "proteinEffect": { "hgvs": "NP_001309407.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718223" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "A", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322479.2:c.1224A=" ], "proteinEffect": { "hgvs": "NP_001309408.1:p.Ala408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718224" }, { "coordinates": [ { "allele": "A", "end": 1225, "referenceAllele": "A", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322480.2:c.1062A=" ], "proteinEffect": { "hgvs": "NP_001309409.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718225" }, { "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "A", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322481.2:c.1062A=" ], "proteinEffect": { "hgvs": "NP_001309410.1:p.Ala354=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718226" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "A", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322482.2:c.963A=" ], "proteinEffect": { "hgvs": "NP_001309411.1:p.Ala321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718227" }, { "coordinates": [ { "allele": "A", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322483.2:c.954A=" ], "proteinEffect": { "hgvs": "NP_001309412.1:p.Ala318=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718228" }, { "coordinates": [ { "allele": "A", "end": 1423, "referenceAllele": "A", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322484.2:c.954A=" ], "proteinEffect": { "hgvs": "NP_001309413.1:p.Ala318=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718229" }, { "coordinates": [ { "allele": "A", "end": 1315, "referenceAllele": "A", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322485.2:c.855A=" ], "proteinEffect": { "hgvs": "NP_001309414.1:p.Ala285=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718230" }, { "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "A", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322487.2:c.351A=" ], "proteinEffect": { "hgvs": "NP_001309416.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718231" }, { "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "A", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN005163", "geneNCBI_id": 3257, "geneSymbol": "HPS1", "hgvs": [ "NM_001322489.2:c.351A=" ], "proteinEffect": { "hgvs": "NP_001309418.1:p.Ala117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718232" } ], "type": "nucleotide" }