{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10163395", "communityStandardTitle": [ "NM_022081.6(HPS4):c.1132C>G (p.Gln378Glu)" ], "externalRecords": { "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-26860464-G-C", "id": "22-26860464-G-C", "variant": "22:26860464 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26860464G>C?assembly=hg19", "id": "chr22:g.26860464G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26464498G>C?assembly=hg38", "id": "chr22:g.26464498G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369053765", "rs": 369053765 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26860464-G-C?dataset=gnomad_r2_1", "id": "22-26860464-G-C", "variant": "22:26860464 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26464498-G-C?dataset=gnomad_r3", "id": "22-26464498-G-C", "variant": "22:26464498 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26464498-G-C?dataset=gnomad_r4", "id": "22-26464498-G-C", "variant": "22:26464498 G / C" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 26464498, "referenceAllele": "G", "start": 26464497 } ], "hgvs": [ "NC_000022.11:g.26464498G>C", "CM000684.2:g.26464498G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 26860464, "referenceAllele": "G", "start": 26860463 } ], "hgvs": [ "NC_000022.10:g.26860464G>C", "CM000684.1:g.26860464G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 25190464, "referenceAllele": "G", "start": 25190463 } ], "hgvs": [ "NC_000022.9:g.25190464G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 24366, "referenceAllele": "C", "start": 24365 } ], "hgvs": [ "NG_009763.2:g.24366C>G", "LRG_590:g.24366C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.3:c.1186C>G" ], "proteinEffect": { "hgvs": "ENSP00000415081.3:p.Gln396Glu", "hgvsWellDefined": "ENSP00000415081.3:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS904782" }, { "coordinates": [ { "allele": "G", "end": 1853, "referenceAllele": "C", "start": 1852 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000473782.2:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000514223.1:p.Gln378Glu", "hgvsWellDefined": "ENSP00000514223.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS905210" }, { "coordinates": [ { "allele": "G", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000483631.2:c.337C>G" ], "proteinEffect": { "hgvs": "ENSP00000514228.1:p.Gln113Glu", "hgvsWellDefined": "ENSP00000514228.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS905307" }, { "coordinates": [ { "allele": "G", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000491142.2:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000514221.1:p.Gln378Glu", "hgvsWellDefined": "ENSP00000514221.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS905383" }, { "coordinates": [ { "allele": "G", "end": 4058, "referenceAllele": "C", "start": 4057 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699226.1:n.4058C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910166" }, { "coordinates": [ { "allele": "G", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699227.1:c.*476C>G" ], "proteinEffect": { "hgvs": "ENSP00000514220.1:n.*476C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910167" }, { "coordinates": [ { "allele": "G", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699228.1:n.1682C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910168" }, { "coordinates": [ { "allele": "G", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699229.1:n.549C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910169" }, { "coordinates": [ { "allele": "G", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699230.1:n.1855C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910170" }, { "coordinates": [ { "allele": "G", "end": 4144, "referenceAllele": "C", "start": 4143 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699231.1:n.4144C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910171" }, { "coordinates": [ { "allele": "G", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699232.1:n.2488C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910172" }, { "coordinates": [ { "allele": "G", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699233.1:n.1003C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910173" }, { "coordinates": [ { "allele": "G", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699234.1:c.*476C>G" ], "proteinEffect": { "hgvs": "ENSP00000514222.1:n.*476C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910174" }, { "coordinates": [ { "allele": "G", "end": 1578, "referenceAllele": "C", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699235.1:c.337C>G" ], "proteinEffect": { "hgvs": "ENSP00000514224.1:p.Gln113Glu", "hgvsWellDefined": "ENSP00000514224.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS910175" }, { "coordinates": [ { "allele": "G", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699236.1:c.*321C>G" ], "proteinEffect": { "hgvs": "ENSP00000514225.1:n.*321C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910176" }, { "coordinates": [ { "allele": "G", "end": 1630, "referenceAllele": "C", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699237.1:c.*321C>G" ], "proteinEffect": { "hgvs": "ENSP00000514226.1:n.*321C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910177" }, { "coordinates": [ { "allele": "G", "end": 1808, "referenceAllele": "C", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699238.1:c.*675C>G" ], "proteinEffect": { "hgvs": "ENSP00000514227.1:n.*675C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910178" }, { "coordinates": [ { "allele": "G", "end": 3886, "referenceAllele": "C", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699239.1:n.3886C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910179" }, { "coordinates": [ { "allele": "G", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699240.1:c.*789C>G" ], "proteinEffect": { "hgvs": "ENSP00000514229.1:n.*789C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910180" }, { "coordinates": [ { "allele": "G", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699241.1:c.*1324C>G" ], "proteinEffect": { "hgvs": "ENSP00000514230.1:n.*1324C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910181" }, { "coordinates": [ { "allele": "G", "end": 1622, "referenceAllele": "C", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699242.1:c.1042C>G" ], "proteinEffect": { "hgvs": "ENSP00000514231.1:p.Gln348Glu", "hgvsWellDefined": "ENSP00000514231.1:p.Gln348Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS910182" }, { "coordinates": [ { "allele": "G", "end": 1740, "referenceAllele": "C", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699243.1:c.*476C>G" ], "proteinEffect": { "hgvs": "ENSP00000514232.1:n.*476C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910183" }, { "coordinates": [ { "allele": "G", "end": 1641, "endIntronDirection": "-", "endIntronOffset": 54, "referenceAllele": "C", "start": 1641, "startIntronDirection": "-", "startIntronOffset": 55 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699244.1:c.1040-55C>G" ], "proteinEffect": { "hgvs": "ENSP00000514233.1:n.1040-55C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910184" }, { "coordinates": [ { "allele": "G", "end": 1750, "endIntronDirection": "-", "endIntronOffset": 54, "referenceAllele": "C", "start": 1750, "startIntronDirection": "-", "startIntronOffset": 55 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699246.1:c.*558-55C>G" ], "proteinEffect": { "hgvs": "ENSP00000514234.1:n.*558-55C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910186" }, { "coordinates": [ { "allele": "G", "end": 1210, "endIntronDirection": "+", "endIntronOffset": 4053, "referenceAllele": "C", "start": 1210, "startIntronDirection": "+", "startIntronOffset": 4052 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699247.1:c.669+4053C>G" ], "proteinEffect": { "hgvs": "ENSP00000514235.1:n.669+4053C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "G", "end": 3202, "referenceAllele": "C", "start": 3201 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.3202C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "G", "end": 1698, "referenceAllele": "C", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.*476C>G" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:n.*476C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "G", "end": 1730, "referenceAllele": "C", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:p.Gln378Glu", "hgvsWellDefined": "ENSP00000514237.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "G", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Gln378Glu", "hgvsWellDefined": "ENSP00000514238.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "G", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.1682C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln378Glu", "hgvsWellDefined": "ENSP00000381213.2:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.1132C>G" }, "RefSeq": { "hgvs": "NM_022081.6:c.1132C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln378Glu" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln378Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Gln378Glu", "hgvsWellDefined": "ENSP00000338457.5:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "G", "end": 1749, "referenceAllele": "C", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.1132C>G" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln378Glu", "hgvsWellDefined": "ENSP00000381213.2:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.1117C>G" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Gln373Glu", "hgvsWellDefined": "ENSP00000384185.3:p.Gln373Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "G", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.2:c.1186C>G" ], "proteinEffect": { "hgvs": "ENSP00000415081.2:p.Gln396Glu", "hgvsWellDefined": "ENSP00000415081.2:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287249" }, { "coordinates": [ { "allele": "G", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.*704C>G" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:n.*704C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "G", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.*650C>G" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:n.*650C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "G", "end": 2132, "referenceAllele": "C", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.*1463C>G" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:n.*1463C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "G", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.3991C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "G", "end": 404, "endIntronDirection": "+", "endIntronOffset": 4053, "referenceAllele": "C", "start": 404, "startIntronDirection": "+", "startIntronOffset": 4052 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.404+4053C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "G", "end": 1898, "referenceAllele": "C", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.1898C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "@id": "http://reg.genome.network/allele/PA3088612991", "coordinates": [ { "allele": "G", "end": 1800, "referenceAllele": "C", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.1132C>G", "LRG_590t1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln378Glu", "hgvsWellDefined": "NP_071364.4:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "coordinates": [ { "allele": "G", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.1117C>G", "LRG_590t2:c.1117C>G" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Gln373Glu", "hgvsWellDefined": "NP_690054.1:p.Gln373Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "G", "end": 1818, "referenceAllele": "C", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.1818C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "G", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.1580C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "G", "end": 1845, "referenceAllele": "C", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.1186C>G" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Gln396Glu", "hgvsWellDefined": "XP_006724416.1:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "G", "end": 1750, "referenceAllele": "C", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.1186C>G" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Gln396Glu", "hgvsWellDefined": "XP_006724417.1:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.2:c.619C>G" ], "proteinEffect": { "hgvs": "XP_006724423.1:p.Gln207Glu", "hgvsWellDefined": "XP_006724423.1:p.Gln207Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS075487" }, { "coordinates": [ { "allele": "G", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528787.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "G", "end": 1828, "referenceAllele": "C", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528788.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "G", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528789.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "G", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528790.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "G", "end": 1934, "referenceAllele": "C", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528791.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "G", "end": 1869, "referenceAllele": "C", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.1210C>G" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln404Glu", "hgvsWellDefined": "XP_011528792.1:p.Gln404Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "G", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528793.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "G", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528794.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "G", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528795.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "G", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.472C>G" ], "proteinEffect": { "hgvs": "XP_011528796.1:p.Gln158Glu", "hgvsWellDefined": "XP_011528796.1:p.Gln158Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530495.1:c.619C>G" ], "proteinEffect": { "hgvs": "XP_011528797.1:p.Gln207Glu", "hgvsWellDefined": "XP_011528797.1:p.Gln207Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097551" }, { "coordinates": [ { "allele": "G", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530496.1:c.472C>G" ], "proteinEffect": { "hgvs": "XP_011528798.1:p.Gln158Glu", "hgvsWellDefined": "XP_011528798.1:p.Gln158Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS097552" }, { "coordinates": [ { "allele": "G", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.1923C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "coordinates": [ { "allele": "G", "end": 1709, "referenceAllele": "C", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336825.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "coordinates": [ { "allele": "G", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336827.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "C", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336828.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "coordinates": [ { "allele": "G", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.1186C>G" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln396Glu", "hgvsWellDefined": "NP_001336829.1:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "coordinates": [ { "allele": "G", "end": 1763, "referenceAllele": "C", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.1186C>G" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Gln396Glu", "hgvsWellDefined": "NP_001336830.1:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "coordinates": [ { "allele": "G", "end": 1709, "referenceAllele": "C", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336831.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336831.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "coordinates": [ { "allele": "G", "end": 1800, "referenceAllele": "C", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336832.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "coordinates": [ { "allele": "G", "end": 1800, "referenceAllele": "C", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336833.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "coordinates": [ { "allele": "G", "end": 1709, "referenceAllele": "C", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336834.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "G", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.1909C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "G", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.1734C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "G", "end": 1754, "referenceAllele": "C", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.1754C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "G", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.1885C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "G", "end": 1825, "referenceAllele": "C", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.1825C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "G", "end": 1800, "referenceAllele": "C", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.1800C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.3:c.619C>G" ], "proteinEffect": { "hgvs": "XP_006724423.1:p.Gln207Glu", "hgvsWellDefined": "XP_006724423.1:p.Gln207Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540959" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528787.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "G", "end": 1828, "referenceAllele": "C", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528788.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "G", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528789.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "G", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528790.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "G", "end": 1934, "referenceAllele": "C", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528791.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "G", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.1210C>G" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln404Glu", "hgvsWellDefined": "XP_011528792.1:p.Gln404Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528793.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528794.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.1264C>G" ], "proteinEffect": { "hgvs": "XP_011528795.1:p.Gln422Glu", "hgvsWellDefined": "XP_011528795.1:p.Gln422Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "G", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.472C>G" ], "proteinEffect": { "hgvs": "XP_011528796.1:p.Gln158Glu", "hgvsWellDefined": "XP_011528796.1:p.Gln158Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530495.2:c.619C>G" ], "proteinEffect": { "hgvs": "XP_011528797.1:p.Gln207Glu", "hgvsWellDefined": "XP_011528797.1:p.Gln207Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550015" }, { "coordinates": [ { "allele": "G", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530496.2:c.472C>G" ], "proteinEffect": { "hgvs": "XP_011528798.1:p.Gln158Glu", "hgvsWellDefined": "XP_011528798.1:p.Gln158Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS550016" }, { "coordinates": [ { "allele": "G", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.1210C>G" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Gln404Glu", "hgvsWellDefined": "XP_016884534.1:p.Gln404Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "G", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.1132C>G" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Gln378Glu", "hgvsWellDefined": "XP_016884535.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "G", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.1210C>G" ], "proteinEffect": { "hgvs": "XP_016884536.1:p.Gln404Glu", "hgvsWellDefined": "XP_016884536.1:p.Gln404Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "G", "end": 1949, "referenceAllele": "C", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.724C>G" ], "proteinEffect": { "hgvs": "XP_016884541.1:p.Gln242Glu", "hgvsWellDefined": "XP_016884541.1:p.Gln242Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "G", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029053.1:c.709C>G" ], "proteinEffect": { "hgvs": "XP_016884542.1:p.Gln237Glu", "hgvsWellDefined": "XP_016884542.1:p.Gln237Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578665" }, { "coordinates": [ { "allele": "G", "end": 1962, "referenceAllele": "C", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.337C>G" ], "proteinEffect": { "hgvs": "XP_016884545.1:p.Gln113Glu", "hgvsWellDefined": "XP_016884545.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "G", "end": 1920, "referenceAllele": "C", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.337C>G" ], "proteinEffect": { "hgvs": "XP_016884550.1:p.Gln113Glu", "hgvsWellDefined": "XP_016884550.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "G", "end": 1695, "referenceAllele": "C", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.337C>G" ], "proteinEffect": { "hgvs": "XP_016884551.1:p.Gln113Glu", "hgvsWellDefined": "XP_016884551.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578668" }, { "coordinates": [ { "allele": "G", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029063.2:c.337C>G" ], "proteinEffect": { "hgvs": "XP_016884552.1:p.Gln113Glu", "hgvsWellDefined": "XP_016884552.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578669" }, { "coordinates": [ { "allele": "G", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029064.2:c.337C>G" ], "proteinEffect": { "hgvs": "XP_016884553.1:p.Gln113Glu", "hgvsWellDefined": "XP_016884553.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578670" }, { "coordinates": [ { "allele": "G", "end": 3895, "referenceAllele": "C", "start": 3894 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452298.1:c.505C>G" ], "proteinEffect": { "hgvs": "XP_024308066.1:p.Gln169Glu", "hgvsWellDefined": "XP_024308066.1:p.Gln169Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585795" }, { "coordinates": [ { "allele": "G", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452299.1:c.337C>G" ], "proteinEffect": { "hgvs": "XP_024308067.1:p.Gln113Glu", "hgvsWellDefined": "XP_024308067.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585796" }, { "coordinates": [ { "allele": "G", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452300.1:c.337C>G" ], "proteinEffect": { "hgvs": "XP_024308068.1:p.Gln113Glu", "hgvsWellDefined": "XP_024308068.1:p.Gln113Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585797" }, { "coordinates": [ { "allele": "G", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755361.2:n.1840C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601115" }, { "coordinates": [ { "allele": "G", "end": 1696, "referenceAllele": "C", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755364.1:n.1696C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601116" }, { "coordinates": [ { "allele": "G", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.2369C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.1918C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "C", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.1918C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "coordinates": [ { "allele": "G", "end": 1848, "referenceAllele": "C", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336827.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "C", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336828.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "coordinates": [ { "allele": "G", "end": 1774, "referenceAllele": "C", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.1186C>G" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln396Glu", "hgvsWellDefined": "NP_001336829.1:p.Gln396Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336832.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336832.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln378Glu", "hgvsWellDefined": "NP_001336833.1:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "G", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.1387C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "G", "end": 1829, "referenceAllele": "C", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.1829C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "G", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.1674C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "G", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.1745C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA3088612991", "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.1132C>G" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln378Glu", "hgvsWellDefined": "NP_071364.4:p.Gln378Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.1132C>G" }, "RefSeq": { "hgvs": "NM_022081.6:c.1132C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln378Glu" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln378Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.1720C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }