Canonical Allele Identifier: CA2326049564
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826899G= , CM000681.2:g.17826899G= GRCh38
NC_000019.9:g.17937708G= , CM000681.1:g.17937708G= GRCh37
NC_000019.8:g.17798708G= NCBI36
NG_007273.1:g.26093C= , LRG_77:g.26093C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1776C= ENSP00000513006.1:n.*1776C=
ENST00000696967.1:n.2396C=
ENST00000696968.1:n.452C=
ENST00000696969.1:n.2176C=
ENST00000458235.7:c.3219C= MANE Select ENSP00000391676.1:p.Leu1073=
ENST00000458235.5:c.3219C= ENSP00000391676.1:p.Leu1073=
ENST00000527031.5:n.2279-1589C=
ENST00000527670.5:c.3219C= ENSP00000432511.1:p.Leu1073=
NM_000215.3:c.3219C= , LRG_77t1:c.3219C= NP_000206.2:p.Leu1073=
XM_005259896.2:c.3348C= XP_005259953.1:p.Leu1116=
XM_006722745.2:c.3219C= XP_006722808.1:p.Leu1073=
XM_005259896.3:c.3348C= XP_005259953.1:p.Leu1116=
NM_000215.4:c.3219C= MANE Select NP_000206.2:p.Leu1073=
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