Canonical Allele Identifier: CA2326053507
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834828C= , CM000681.2:g.17834828C= GRCh38
NC_000019.9:g.17945637C= , CM000681.1:g.17945637C= GRCh37
NC_000019.8:g.17806637C= NCBI36
NG_007273.1:g.18164G= , LRG_77:g.18164G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*756+24G= ENSP00000513006.1:n.*756+24G=
ENST00000696967.1:n.1376+24G=
ENST00000696970.1:n.854+24G=
ENST00000458235.7:c.2199+24G= MANE Select ENSP00000391676.1:n.2199+24G=
ENST00000458235.5:c.2199+24G= ENSP00000391676.1:n.2199+24G=
ENST00000527031.5:n.2278+1899G=
ENST00000527670.5:c.2199+24G= ENSP00000432511.1:n.2199+24G=
ENST00000534444.1:c.2199+24G= ENSP00000436421.1:n.2199+24G=
NM_000215.3:c.2199+24G= , LRG_77t1:c.2199+24G= NP_000206.2:n.2199+24G=
XM_005259896.2:c.2328+24G= XP_005259953.1:n.2328+24G=
XM_006722745.2:c.2199+24G= XP_006722808.1:n.2199+24G=
XM_011527990.1:c.2328+24G= XP_011526292.1:n.2328+24G=
XR_430137.2:n.2338+24G=
XM_005259896.3:c.2328+24G= XP_005259953.1:n.2328+24G=
NM_000215.4:c.2199+24G= MANE Select NP_000206.2:n.2199+24G=