Canonical Allele Identifier: CA2326049547
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826843C= , CM000681.2:g.17826843C= GRCh38
NC_000019.9:g.17937652C= , CM000681.1:g.17937652C= GRCh37
NC_000019.8:g.17798652C= NCBI36
NG_007273.1:g.26149G= , LRG_77:g.26149G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1832G= ENSP00000513006.1:n.*1832G=
ENST00000696967.1:n.2452G=
ENST00000696968.1:n.508G=
ENST00000696969.1:n.2232G=
ENST00000458235.7:c.3275G= MANE Select ENSP00000391676.1:p.Gly1092=
ENST00000458235.5:c.3275G= ENSP00000391676.1:p.Gly1092=
ENST00000527031.5:n.2279-1533G=
ENST00000527670.5:c.3275G= ENSP00000432511.1:p.Gly1092=
NM_000215.3:c.3275G= , LRG_77t1:c.3275G= NP_000206.2:p.Gly1092=
XM_005259896.2:c.3404G= XP_005259953.1:p.Gly1135=
XM_006722745.2:c.3275G= XP_006722808.1:p.Gly1092=
XM_005259896.3:c.3404G= XP_005259953.1:p.Gly1135=
NM_000215.4:c.3275G= MANE Select NP_000206.2:p.Gly1092=