{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2490657", "communityStandardTitle": [ "NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=889619[alleleid]", "alleleId": 889619, "preferredName": "NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/900477", "RCV": [ "RCV001145710", "RCV001145709", "RCV001574270", "RCV002559407" ], "variationId": 900477 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-70014214-G-A", "id": "3-70014214-G-A", "variant": "3:70014214 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.70014214G>A?assembly=hg19", "id": "chr3:g.70014214G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69965063G>A?assembly=hg38", "id": "chr3:g.69965063G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/150995386", "rs": 150995386 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-70014214-G-A?dataset=gnomad_r2_1", "id": "3-70014214-G-A", "variant": "3:70014214 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-69965063-G-A?dataset=gnomad_r3", "id": "3-69965063-G-A", "variant": "3:69965063 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-69965063-G-A?dataset=gnomad_r4", "id": "3-69965063-G-A", "variant": "3:69965063 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 69965063, "referenceAllele": "G", "start": 69965062 } ], "hgvs": [ "NC_000003.12:g.69965063G>A", "CM000665.2:g.69965063G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 70014214, "referenceAllele": "G", "start": 70014213 } ], "hgvs": [ "NC_000003.11:g.70014214G>A", "CM000665.1:g.70014214G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 70096904, "referenceAllele": "G", "start": 70096903 } ], "hgvs": [ "NC_000003.10:g.70096904G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 230582, "referenceAllele": "G", "start": 230581 } ], "hgvs": [ "NG_011631.1:g.230582G>A", "LRG_776:g.230582G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001866" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.11:c.1330G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Glu444Lys", "hgvsWellDefined": "ENSP00000324443.5:p.Glu444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS904376" }, { "coordinates": [ { "allele": "A", "end": 1649, "referenceAllele": "G", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000687384.1:c.1327G>A" ], "proteinEffect": { "hgvs": "ENSP00000510225.1:p.Glu443Lys", "hgvsWellDefined": "ENSP00000510225.1:p.Glu443Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS831059" }, { "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000689390.1:n.1552G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832144" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693031.1:c.1303G>A" ], "proteinEffect": { "hgvs": "ENSP00000509845.1:p.Glu435Lys", "hgvsWellDefined": "ENSP00000509845.1:p.Glu435Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS834028" }, { "coordinates": [ { "allele": "A", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693549.1:c.*141G>A" ], "proteinEffect": { "hgvs": "ENSP00000509358.1:n.*141G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834302" }, { "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.10:c.1330G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Glu444Lys", "hgvsWellDefined": "ENSP00000324443.5:p.Glu444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS745938" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "G", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.9:c.1396G>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.8:p.Glu466Lys", "hgvsWellDefined": "ENSP00000295600.8:p.Glu466Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.1396G>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.1396G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Glu466Lys" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Glu466Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.9:c.1075G>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Glu359Lys", "hgvsWellDefined": "ENSP00000377880.3:p.Glu359Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.1075G>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.1075G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Glu359Lys" }, "RefSeq": { "hgvs": "NP_000239.1:p.Glu359Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.9:c.1375G>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.3:p.Glu459Lys", "hgvsWellDefined": "ENSP00000391803.3:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756165" }, { "coordinates": [ { "allele": "A", "end": 1494, "referenceAllele": "G", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000642352.1:c.1378G>A" ], "proteinEffect": { "hgvs": "ENSP00000494105.1:p.Glu460Lys", "hgvsWellDefined": "ENSP00000494105.1:p.Glu460Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766693" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314557.10:c.1057G>A" ], "proteinEffect": { "hgvs": "ENSP00000324246.6:p.Glu353Lys", "hgvsWellDefined": "ENSP00000324246.6:p.Glu353Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS256974" }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.9:c.1330G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Glu444Lys", "hgvsWellDefined": "ENSP00000324443.5:p.Glu444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS256980" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000328528.10:c.1375G>A" ], "proteinEffect": { "hgvs": "ENSP00000327867.6:p.Glu459Lys", "hgvsWellDefined": "ENSP00000327867.6:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS258925" }, { "coordinates": [ { "allele": "A", "end": 1541, "referenceAllele": "G", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.8:c.1378G>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.7:p.Glu460Lys", "hgvsWellDefined": "ENSP00000295600.7:p.Glu460Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262847" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.7:c.1075G>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Glu359Lys", "hgvsWellDefined": "ENSP00000377880.3:p.Glu359Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276136" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "G", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.6:c.1396G>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.2:p.Glu466Lys", "hgvsWellDefined": "ENSP00000391803.2:p.Glu466Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS299629" }, { "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000472437.5:c.1222G>A" ], "proteinEffect": { "hgvs": "ENSP00000418845.1:p.Glu408Lys", "hgvsWellDefined": "ENSP00000418845.1:p.Glu408Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS314406" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000478490.5:c.*722G>A" ], "proteinEffect": { "hgvs": "ENSP00000433487.1:n.*722G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS319090" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000531774.1:c.889G>A" ], "proteinEffect": { "hgvs": "ENSP00000435909.1:p.Glu297Lys", "hgvsWellDefined": "ENSP00000435909.1:p.Glu297Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS356810" }, { "@id": "http://reg.genome.network/allele/PA2825105697", "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.3:c.1075G>A", "LRG_776t1:c.1075G>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Glu359Lys", "hgvsWellDefined": "NP_000239.1:p.Glu359Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006310" }, { "@id": "http://reg.genome.network/allele/PA2826151528", "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.1:c.1222G>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Glu408Lys", "hgvsWellDefined": "NP_001171896.1:p.Glu408Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS016055" }, { "@id": "http://reg.genome.network/allele/PA2829651479", "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.2:c.1375G>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Glu459Lys", "hgvsWellDefined": "NP_006713.1:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS031711" }, { "@id": "http://reg.genome.network/allele/PA2830431513", "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.2:c.1057G>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Glu353Lys", "hgvsWellDefined": "NP_937801.1:p.Glu353Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044446" }, { "@id": "http://reg.genome.network/allele/PA2830432110", "coordinates": [ { "allele": "A", "end": 1541, "referenceAllele": "G", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.2:c.1378G>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Glu460Lys", "hgvsWellDefined": "NP_937802.1:p.Glu460Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044447" }, { "@id": "http://reg.genome.network/allele/PA2830433141", "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.2:c.1330G>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Glu444Lys", "hgvsWellDefined": "NP_937820.1:p.Glu444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044451" }, { "@id": "http://reg.genome.network/allele/PA2830433661", "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.2:c.889G>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Glu297Lys", "hgvsWellDefined": "NP_937821.2:p.Glu297Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044452" }, { "coordinates": [ { "allele": "A", "end": 1531, "referenceAllele": "G", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264754.1:c.1396G>A" ], "proteinEffect": { "hgvs": "XP_005264811.1:p.Glu466Lys", "hgvsWellDefined": "XP_005264811.1:p.Glu466Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064358" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "G", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264755.2:c.1348G>A" ], "proteinEffect": { "hgvs": "XP_005264812.1:p.Glu450Lys", "hgvsWellDefined": "XP_005264812.1:p.Glu450Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064359" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_006713164.2:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_006713227.1:p.Glu414Lys", "hgvsWellDefined": "XP_006713227.1:p.Glu414Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS070030" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533722.1:c.1393G>A" ], "proteinEffect": { "hgvs": "XP_011532024.1:p.Glu465Lys", "hgvsWellDefined": "XP_011532024.1:p.Glu465Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS100743" }, { "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533723.1:c.1345G>A" ], "proteinEffect": { "hgvs": "XP_011532025.1:p.Glu449Lys", "hgvsWellDefined": "XP_011532025.1:p.Glu449Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS100744" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533724.1:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_011532026.1:p.Glu414Lys", "hgvsWellDefined": "XP_011532026.1:p.Glu414Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS100745" }, { "coordinates": [ { "allele": "A", "end": 1391, "referenceAllele": "G", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533725.1:c.1228G>A" ], "proteinEffect": { "hgvs": "XP_011532027.1:p.Glu410Lys", "hgvsWellDefined": "XP_011532027.1:p.Glu410Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS100746" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533726.1:c.1210G>A" ], "proteinEffect": { "hgvs": "XP_011532028.1:p.Glu404Lys", "hgvsWellDefined": "XP_011532028.1:p.Glu404Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS100747" }, { "@id": "http://reg.genome.network/allele/PA1139729187", "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.1:c.1396G>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Glu466Lys", "hgvsWellDefined": "NP_001341533.1:p.Glu466Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522548" }, { "@id": "http://reg.genome.network/allele/PA2827881760", "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.1:c.1393G>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Glu465Lys", "hgvsWellDefined": "NP_001341534.1:p.Glu465Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522549" }, { "@id": "http://reg.genome.network/allele/PA2827882130", "coordinates": [ { "allele": "A", "end": 1538, "referenceAllele": "G", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.1:c.1375G>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Glu459Lys", "hgvsWellDefined": "NP_001341535.1:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882497", "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.1327G>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Glu443Lys", "hgvsWellDefined": "NP_001341536.1:p.Glu443Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522551" }, { "@id": "http://reg.genome.network/allele/PA2827882845", "coordinates": [ { "allele": "A", "end": 1580, "referenceAllele": "G", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.1:c.1222G>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Glu408Lys", "hgvsWellDefined": "NP_001341537.1:p.Glu408Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151528", "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.1222G>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Glu408Lys", "hgvsWellDefined": "NP_001171896.1:p.Glu408Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA1139729187", "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "G", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.1396G>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Glu466Lys", "hgvsWellDefined": "NP_001341533.1:p.Glu466Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.1396G>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.1396G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Glu466Lys" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Glu466Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881760", "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.1393G>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Glu465Lys", "hgvsWellDefined": "NP_001341534.1:p.Glu465Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827882130", "coordinates": [ { "allele": "A", "end": 1509, "referenceAllele": "G", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.1375G>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Glu459Lys", "hgvsWellDefined": "NP_001341535.1:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882497", "coordinates": [ { "allele": "A", "end": 1641, "referenceAllele": "G", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.1327G>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Glu443Lys", "hgvsWellDefined": "NP_001341536.1:p.Glu443Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2827882845", "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.1222G>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Glu408Lys", "hgvsWellDefined": "NP_001341537.1:p.Glu408Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431513", "coordinates": [ { "allele": "A", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.1057G>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Glu353Lys", "hgvsWellDefined": "NP_937801.1:p.Glu353Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830432110", "coordinates": [ { "allele": "A", "end": 1512, "referenceAllele": "G", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.1378G>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Glu460Lys", "hgvsWellDefined": "NP_937802.1:p.Glu460Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830433141", "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.1330G>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Glu444Lys", "hgvsWellDefined": "NP_937820.1:p.Glu444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA2830433661", "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.889G>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Glu297Lys", "hgvsWellDefined": "NP_937821.2:p.Glu297Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105697", "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.1075G>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Glu359Lys", "hgvsWellDefined": "NP_000239.1:p.Glu359Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.1075G>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.1075G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Glu359Lys" }, "RefSeq": { "hgvs": "NP_000239.1:p.Glu359Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651479", "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.1375G>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Glu459Lys", "hgvsWellDefined": "NP_006713.1:p.Glu459Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }