Canonical Allele Identifier: CA2326057786
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843788C= , CM000681.2:g.17843788C= GRCh38
NC_000019.9:g.17954597C= , CM000681.1:g.17954597C= GRCh37
NC_000019.8:g.17815597C= NCBI36
NG_007273.1:g.9204G= , LRG_77:g.9204G=

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.297G= ENSP00000513006.1:p.Leu99=
ENST00000458235.7:c.297G= MANE Select ENSP00000391676.1:p.Leu99=
ENST00000458235.5:c.297G= ENSP00000391676.1:p.Leu99=
ENST00000526008.5:n.397G=
ENST00000527031.5:n.387G=
ENST00000527670.5:c.297G= ENSP00000432511.1:p.Leu99=
ENST00000528293.1:n.324-297G=
ENST00000534444.1:c.297G= ENSP00000436421.1:p.Leu99=
NM_000215.3:c.297G= , LRG_77t1:c.297G= NP_000206.2:p.Leu99=
XM_005259896.2:c.426G= XP_005259953.1:p.Leu142=
XM_006722745.2:c.297G= XP_006722808.1:p.Leu99=
XM_011527990.1:c.426G= XP_011526292.1:p.Leu142=
XM_011527991.1:c.426G= XP_011526293.1:p.Leu142=
XR_430137.2:n.436G=
XM_005259896.3:c.426G= XP_005259953.1:p.Leu142=
XM_011527991.2:c.426G= XP_011526293.1:p.Leu142=
NM_000215.4:c.297G= MANE Select NP_000206.2:p.Leu99=