Canonical Allele Identifier: CA2326049561
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826891A= , CM000681.2:g.17826891A= GRCh38
NC_000019.9:g.17937700A= , CM000681.1:g.17937700A= GRCh37
NC_000019.8:g.17798700A= NCBI36
NG_007273.1:g.26101T= , LRG_77:g.26101T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1784T= ENSP00000513006.1:n.*1784T=
ENST00000696967.1:n.2404T=
ENST00000696968.1:n.460T=
ENST00000696969.1:n.2184T=
ENST00000458235.7:c.3227T= MANE Select ENSP00000391676.1:p.Leu1076=
ENST00000458235.5:c.3227T= ENSP00000391676.1:p.Leu1076=
ENST00000527031.5:n.2279-1581T=
ENST00000527670.5:c.3227T= ENSP00000432511.1:p.Leu1076=
NM_000215.3:c.3227T= , LRG_77t1:c.3227T= NP_000206.2:p.Leu1076=
XM_005259896.2:c.3356T= XP_005259953.1:p.Leu1119=
XM_006722745.2:c.3227T= XP_006722808.1:p.Leu1076=
XM_005259896.3:c.3356T= XP_005259953.1:p.Leu1119=
NM_000215.4:c.3227T= MANE Select NP_000206.2:p.Leu1076=