{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375775586", "communityStandardTitle": [ "NM_024757.5(EHMT1):c.1810C>A (p.Gln604Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.140671088C>A?assembly=hg19", "id": "chr9:g.140671088C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.137776636C>A?assembly=hg38", "id": "chr9:g.137776636C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852717", "rs": 137852717 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-137776636-C-A?dataset=gnomad_r4", "id": "9-137776636-C-A", "variant": "9:137776636 C / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 137776636, "referenceAllele": "C", "start": 137776635 } ], "hgvs": [ "NC_000009.12:g.137776636C>A", "CM000671.2:g.137776636C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 140671088, "referenceAllele": "C", "start": 140671087 } ], "hgvs": [ "NC_000009.11:g.140671088C>A", "CM000671.1:g.140671088C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 139790909, "referenceAllele": "C", "start": 139790908 } ], "hgvs": [ "NC_000009.10:g.139790909C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 162645, "referenceAllele": "C", "start": 162644 } ], "hgvs": [ "NG_011776.1:g.162645C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001960" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000460843.6:c.1810C>A" ], "proteinEffect": { "hgvs": "ENSP00000417980.1:p.Gln604Lys", "hgvsWellDefined": "ENSP00000417980.1:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756696", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000460843.6:c.1810C>A" }, "RefSeq": { "hgvs": "NM_024757.5:c.1810C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000417980.1:p.Gln604Lys" }, "RefSeq": { "hgvs": "NP_079033.4:p.Gln604Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1865, "referenceAllele": "C", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000636027.1:c.1696C>A" ], "proteinEffect": { "hgvs": "ENSP00000489961.1:p.Gln566Lys", "hgvsWellDefined": "ENSP00000489961.1:p.Gln566Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762820" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000637161.1:c.1717C>A" ], "proteinEffect": { "hgvs": "ENSP00000490328.1:p.Gln573Lys", "hgvsWellDefined": "ENSP00000490328.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763655" }, { "coordinates": [ { "allele": "A", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000637261.1:c.1850C>A" ], "proteinEffect": { "hgvs": "ENSP00000490815.1:n.1850C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763735" }, { "coordinates": [ { "allele": "A", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000638071.1:c.1437C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764319" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000640639.1:c.979C>A" ], "proteinEffect": { "hgvs": "ENSP00000491823.1:p.Gln327Lys", "hgvsWellDefined": "ENSP00000491823.1:p.Gln327Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765596" }, { "coordinates": [ { "allele": "A", "end": 1782, "referenceAllele": "C", "start": 1781 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000371394.6:c.*1545C>A" ], "proteinEffect": { "hgvs": "ENSP00000485945.1:n.*1545C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268563" }, { "coordinates": [ { "allele": "A", "end": 1876, "referenceAllele": "C", "start": 1875 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000460843.5:c.1810C>A" ], "proteinEffect": { "hgvs": "ENSP00000417980.1:p.Gln604Lys", "hgvsWellDefined": "ENSP00000417980.1:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS305493" }, { "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000462484.5:c.1810C>A" ], "proteinEffect": { "hgvs": "ENSP00000417328.1:p.Gln604Lys", "hgvsWellDefined": "ENSP00000417328.1:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS306730" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000462942.3:c.667C>A" ], "proteinEffect": { "hgvs": "ENSP00000436107.1:p.Gln223Lys", "hgvsWellDefined": "ENSP00000436107.1:p.Gln223Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS307083" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000465566.2:c.358C>A" ], "proteinEffect": { "hgvs": "ENSP00000486261.1:p.Gln120Lys", "hgvsWellDefined": "ENSP00000486261.1:p.Gln120Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS309140" }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "G", "start": 1812 } ], "hgvs": [ "ENST00000626603.1:n.1813G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406761" }, { "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.1:c.1810C>A" ], "proteinEffect": { "hgvs": "NP_001138999.1:p.Gln604Lys", "hgvsWellDefined": "NP_001138999.1:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS013695" }, { "@id": "http://reg.genome.network/allele/PA3075625958", "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_024757.4:c.1810C>A" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Gln604Lys", "hgvsWellDefined": "NP_079033.4:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037991" }, { "coordinates": [ { "allele": "A", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.3:c.1801C>A" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Gln601Lys", "hgvsWellDefined": "XP_005266162.1:p.Gln601Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064916" }, { "coordinates": [ { "allele": "A", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266110.1:c.1717C>A" ], "proteinEffect": { "hgvs": "XP_005266167.1:p.Gln573Lys", "hgvsWellDefined": "XP_005266167.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064917" }, { "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "C", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_006717288.2:c.1792C>A" ], "proteinEffect": { "hgvs": "XP_006717351.1:p.Gln598Lys", "hgvsWellDefined": "XP_006717351.1:p.Gln598Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072095" }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.1:c.1819C>A" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Gln607Lys", "hgvsWellDefined": "XP_011517323.1:p.Gln607Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086194" }, { "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.1:c.1816C>A" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Gln606Lys", "hgvsWellDefined": "XP_011517324.1:p.Gln606Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086195" }, { "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.1:c.1798C>A" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Gln600Lys", "hgvsWellDefined": "XP_011517325.1:p.Gln600Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086196" }, { "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519024.1:c.1741C>A" ], "proteinEffect": { "hgvs": "XP_011517326.1:p.Gln581Lys", "hgvsWellDefined": "XP_011517326.1:p.Gln581Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086197" }, { "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "C", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519025.1:c.1717C>A" ], "proteinEffect": { "hgvs": "XP_011517327.1:p.Gln573Lys", "hgvsWellDefined": "XP_011517327.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086198" }, { "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "C", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519026.1:c.1675C>A" ], "proteinEffect": { "hgvs": "XP_011517328.1:p.Gln559Lys", "hgvsWellDefined": "XP_011517328.1:p.Gln559Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086199" }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519027.1:c.1819C>A" ], "proteinEffect": { "hgvs": "XP_011517329.1:p.Gln607Lys", "hgvsWellDefined": "XP_011517329.1:p.Gln607Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086200" }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519028.1:c.1819C>A" ], "proteinEffect": { "hgvs": "XP_011517330.1:p.Gln607Lys", "hgvsWellDefined": "XP_011517330.1:p.Gln607Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086201" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.1:c.241C>A" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Gln81Lys", "hgvsWellDefined": "XP_011517331.1:p.Gln81Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086202" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519033.1:c.1654C>A" ], "proteinEffect": { "hgvs": "XP_011517335.1:p.Gln552Lys", "hgvsWellDefined": "XP_011517335.1:p.Gln552Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086206" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "C", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.1:c.1717C>A" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Gln573Lys", "hgvsWellDefined": "NP_001341188.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522267" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.1:c.1789C>A" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Gln597Lys", "hgvsWellDefined": "NP_001341192.1:p.Gln597Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522271" }, { "coordinates": [ { "allele": "A", "end": 1889, "referenceAllele": "C", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.5:c.1801C>A" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Gln601Lys", "hgvsWellDefined": "XP_005266162.1:p.Gln601Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS536171" }, { "coordinates": [ { "allele": "A", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.3:c.1819C>A" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Gln607Lys", "hgvsWellDefined": "XP_011517323.1:p.Gln607Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS545172" }, { "coordinates": [ { "allele": "A", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.3:c.1816C>A" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Gln606Lys", "hgvsWellDefined": "XP_011517324.1:p.Gln606Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS545173" }, { "coordinates": [ { "allele": "A", "end": 1965, "referenceAllele": "C", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.3:c.1798C>A" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Gln600Lys", "hgvsWellDefined": "XP_011517325.1:p.Gln600Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS545174" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.3:c.241C>A" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Gln81Lys", "hgvsWellDefined": "XP_011517331.1:p.Gln81Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS545175" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015134.1:c.1795C>A" ], "proteinEffect": { "hgvs": "XP_016870623.1:p.Gln599Lys", "hgvsWellDefined": "XP_016870623.1:p.Gln599Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS567939" }, { "coordinates": [ { "allele": "A", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015136.2:c.1711C>A" ], "proteinEffect": { "hgvs": "XP_016870625.1:p.Gln571Lys", "hgvsWellDefined": "XP_016870625.1:p.Gln571Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS567940" }, { "coordinates": [ { "allele": "A", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015137.1:c.1696C>A" ], "proteinEffect": { "hgvs": "XP_016870626.1:p.Gln566Lys", "hgvsWellDefined": "XP_016870626.1:p.Gln566Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS567941" }, { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015138.1:c.1696C>A" ], "proteinEffect": { "hgvs": "XP_016870627.1:p.Gln566Lys", "hgvsWellDefined": "XP_016870627.1:p.Gln566Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS567942" }, { "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447674.1:c.1639C>A" ], "proteinEffect": { "hgvs": "XP_024303442.1:p.Gln547Lys", "hgvsWellDefined": "XP_024303442.1:p.Gln547Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581255" }, { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447675.1:c.1573C>A" ], "proteinEffect": { "hgvs": "XP_024303443.1:p.Gln525Lys", "hgvsWellDefined": "XP_024303443.1:p.Gln525Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581256" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447676.1:c.934C>A" ], "proteinEffect": { "hgvs": "XP_024303444.1:p.Gln312Lys", "hgvsWellDefined": "XP_024303444.1:p.Gln312Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581257" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "C", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447677.1:c.934C>A" ], "proteinEffect": { "hgvs": "XP_024303445.1:p.Gln312Lys", "hgvsWellDefined": "XP_024303445.1:p.Gln312Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581258" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447678.1:c.1717C>A" ], "proteinEffect": { "hgvs": "XP_024303446.1:p.Gln573Lys", "hgvsWellDefined": "XP_024303446.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581259" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447679.1:c.1717C>A" ], "proteinEffect": { "hgvs": "XP_024303447.1:p.Gln573Lys", "hgvsWellDefined": "XP_024303447.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581260" }, { "coordinates": [ { "allele": "A", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447680.1:c.1552C>A" ], "proteinEffect": { "hgvs": "XP_024303448.1:p.Gln518Lys", "hgvsWellDefined": "XP_024303448.1:p.Gln518Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS581261" }, { "@id": "http://reg.genome.network/allele/PA3075625958", "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_024757.5:c.1810C>A" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Gln604Lys", "hgvsWellDefined": "NP_079033.4:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS670782", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000460843.6:c.1810C>A" }, "RefSeq": { "hgvs": "NM_024757.5:c.1810C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000417980.1:p.Gln604Lys" }, "RefSeq": { "hgvs": "NP_079033.4:p.Gln604Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.2:c.1810C>A" ], "proteinEffect": { "hgvs": "NP_001138999.1:p.Gln604Lys", "hgvsWellDefined": "NP_001138999.1:p.Gln604Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677911" }, { "coordinates": [ { "allele": "A", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.2:c.1717C>A" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Gln573Lys", "hgvsWellDefined": "NP_001341188.1:p.Gln573Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690126" }, { "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.2:c.1789C>A" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Gln597Lys", "hgvsWellDefined": "NP_001341192.1:p.Gln597Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690127" } ], "type": "nucleotide" }