Canonical Allele Identifier: CA2326053499
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834818G= , CM000681.2:g.17834818G= GRCh38
NC_000019.9:g.17945627G= , CM000681.1:g.17945627G= GRCh37
NC_000019.8:g.17806627G= NCBI36
NG_007273.1:g.18174C= , LRG_77:g.18174C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*756+34C= ENSP00000513006.1:n.*756+34C=
ENST00000696967.1:n.1376+34C=
ENST00000696970.1:n.854+34C=
ENST00000458235.7:c.2199+34C= MANE Select ENSP00000391676.1:n.2199+34C=
ENST00000458235.5:c.2199+34C= ENSP00000391676.1:n.2199+34C=
ENST00000527031.5:n.2278+1909C=
ENST00000527670.5:c.2199+34C= ENSP00000432511.1:n.2199+34C=
ENST00000534444.1:c.2199+34C= ENSP00000436421.1:n.2199+34C=
NM_000215.3:c.2199+34C= , LRG_77t1:c.2199+34C= NP_000206.2:n.2199+34C=
XM_005259896.2:c.2328+34C= XP_005259953.1:n.2328+34C=
XM_006722745.2:c.2199+34C= XP_006722808.1:n.2199+34C=
XM_011527990.1:c.2328+34C= XP_011526292.1:n.2328+34C=
XR_430137.2:n.2338+34C=
XM_005259896.3:c.2328+34C= XP_005259953.1:n.2328+34C=
NM_000215.4:c.2199+34C= MANE Select NP_000206.2:n.2199+34C=