Canonical Allele Identifier: CA2326053541
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834910G= , CM000681.2:g.17834910G= GRCh38
NC_000019.9:g.17945719G= , CM000681.1:g.17945719G= GRCh37
NC_000019.8:g.17806719G= NCBI36
NG_007273.1:g.18082C= , LRG_77:g.18082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*698C= ENSP00000513006.1:n.*698C=
ENST00000696967.1:n.1318C=
ENST00000696970.1:n.796C=
ENST00000458235.7:c.2141C= MANE Select ENSP00000391676.1:p.Thr714=
ENST00000458235.5:c.2141C= ENSP00000391676.1:p.Thr714=
ENST00000527031.5:n.2278+1817C=
ENST00000527670.5:c.2141C= ENSP00000432511.1:p.Thr714=
ENST00000534444.1:c.2141C= ENSP00000436421.1:p.Thr714=
NM_000215.3:c.2141C= , LRG_77t1:c.2141C= NP_000206.2:p.Thr714=
XM_005259896.2:c.2270C= XP_005259953.1:p.Thr757=
XM_006722745.2:c.2141C= XP_006722808.1:p.Thr714=
XM_011527990.1:c.2270C= XP_011526292.1:p.Thr757=
XR_430137.2:n.2280C=
XM_005259896.3:c.2270C= XP_005259953.1:p.Thr757=
NM_000215.4:c.2141C= MANE Select NP_000206.2:p.Thr714=