Canonical Allele Identifier: CA506002589
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937606A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826797A>T , CM000681.2:g.17826797A>T GRCh38
NC_000019.9:g.17937606A>T , CM000681.1:g.17937606A>T GRCh37
NC_000019.8:g.17798606A>T NCBI36
NG_007273.1:g.26195T>A , LRG_77:g.26195T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1878T>A ENSP00000513006.1:n.*1878T>A
ENST00000696967.1:n.2498T>A
ENST00000696968.1:n.554T>A
ENST00000696969.1:n.2278T>A
ENST00000458235.7:c.3321T>A MANE Select ENSP00000391676.1:p.Thr1107=
ENST00000458235.5:c.3321T>A ENSP00000391676.1:p.Thr1107=
ENST00000527031.5:n.2279-1487T>A
ENST00000527670.5:c.3321T>A ENSP00000432511.1:p.Thr1107=
NM_000215.3:c.3321T>A , LRG_77t1:c.3321T>A NP_000206.2:p.Thr1107=
XM_005259896.2:c.3450T>A XP_005259953.1:p.Thr1150=
XM_006722745.2:c.3321T>A XP_006722808.1:p.Thr1107=
XM_005259896.3:c.3450T>A XP_005259953.1:p.Thr1150=
NM_000215.4:c.3321T>A MANE Select NP_000206.2:p.Thr1107=
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