Canonical Allele Identifier: CA2326053412
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834624T= , CM000681.2:g.17834624T= GRCh38
NC_000019.9:g.17945433T= , CM000681.1:g.17945433T= GRCh37
NC_000019.8:g.17806433T= NCBI36
NG_007273.1:g.18368A= , LRG_77:g.18368A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*854A= ENSP00000513006.1:n.*854A=
ENST00000696967.1:n.1474A=
ENST00000696970.1:n.952A=
ENST00000458235.7:c.2297A= MANE Select ENSP00000391676.1:p.Gln766=
ENST00000458235.5:c.2297A= ENSP00000391676.1:p.Gln766=
ENST00000527031.5:n.2278+2103A=
ENST00000527670.5:c.2297A= ENSP00000432511.1:p.Gln766=
ENST00000534444.1:c.2297A= ENSP00000436421.1:p.Gln766=
NM_000215.3:c.2297A= , LRG_77t1:c.2297A= NP_000206.2:p.Gln766=
XM_005259896.2:c.2426A= XP_005259953.1:p.Gln809=
XM_006722745.2:c.2297A= XP_006722808.1:p.Gln766=
XM_011527990.1:c.2426A= XP_011526292.1:p.Gln809=
XR_430137.2:n.2436A=
XM_005259896.3:c.2426A= XP_005259953.1:p.Gln809=
NM_000215.4:c.2297A= MANE Select NP_000206.2:p.Gln766=