Canonical Allele Identifier: CA404762936
Gene: JAK3 HGNC NCBI

Linked Data

COSMIC: COSM1239173 COSM1239174
MyVariant Identifiers: chr19:g.17937574T>C (hg19) chr19:g.17826765T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826765T>C , CM000681.2:g.17826765T>C GRCh38
NC_000019.9:g.17937574T>C , CM000681.1:g.17937574T>C GRCh37
NC_000019.8:g.17798574T>C NCBI36
NG_007273.1:g.26227A>G , LRG_77:g.26227A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1910A>G ENSP00000513006.1:n.*1910A>G
ENST00000696967.1:n.2530A>G
ENST00000696968.1:n.586A>G
ENST00000696969.1:n.2310A>G
ENST00000458235.7:c.3353A>G MANE Select ENSP00000391676.1:p.His1118Arg
ENST00000458235.5:c.3353A>G ENSP00000391676.1:p.His1118Arg
ENST00000527031.5:n.2279-1455A>G
ENST00000527670.5:c.3353A>G ENSP00000432511.1:p.His1118Arg
NM_000215.3:c.3353A>G , LRG_77t1:c.3353A>G NP_000206.2:p.His1118Arg
XM_005259896.2:c.3482A>G XP_005259953.1:p.His1161Arg
XM_006722745.2:c.3353A>G XP_006722808.1:p.His1118Arg
XM_005259896.3:c.3482A>G XP_005259953.1:p.His1161Arg
NM_000215.4:c.3353A>G MANE Select NP_000206.2:p.His1118Arg
Search 100 bp 5'
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