Canonical Allele Identifier: CA2326057463
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843050C= , CM000681.2:g.17843050C= GRCh38
NC_000019.9:g.17953859C= , CM000681.1:g.17953859C= GRCh37
NC_000019.8:g.17814859C= NCBI36
NG_007273.1:g.9942G= , LRG_77:g.9942G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.543G= ENSP00000513006.1:p.Pro181=
ENST00000458235.7:c.543G= MANE Select ENSP00000391676.1:p.Pro181=
ENST00000458235.5:c.543G= ENSP00000391676.1:p.Pro181=
ENST00000526008.5:n.643G=
ENST00000527031.5:n.633G=
ENST00000527670.5:c.543G= ENSP00000432511.1:p.Pro181=
ENST00000528293.1:n.558G=
ENST00000534444.1:c.543G= ENSP00000436421.1:p.Pro181=
NM_000215.3:c.543G= , LRG_77t1:c.543G= NP_000206.2:p.Pro181=
XM_005259896.2:c.672G= XP_005259953.1:p.Pro224=
XM_006722745.2:c.543G= XP_006722808.1:p.Pro181=
XM_011527990.1:c.672G= XP_011526292.1:p.Pro224=
XM_011527991.1:c.672G= XP_011526293.1:p.Pro224=
XR_430137.2:n.682G=
XM_005259896.3:c.672G= XP_005259953.1:p.Pro224=
XM_011527991.2:c.672G= XP_011526293.1:p.Pro224=
NM_000215.4:c.543G= MANE Select NP_000206.2:p.Pro181=