Canonical Allele Identifier: CA2326049541
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826832C= , CM000681.2:g.17826832C= GRCh38
NC_000019.9:g.17937641C= , CM000681.1:g.17937641C= GRCh37
NC_000019.8:g.17798641C= NCBI36
NG_007273.1:g.26160G= , LRG_77:g.26160G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1843G= ENSP00000513006.1:n.*1843G=
ENST00000696967.1:n.2463G=
ENST00000696968.1:n.519G=
ENST00000696969.1:n.2243G=
ENST00000458235.7:c.3286G= MANE Select ENSP00000391676.1:p.Asp1096=
ENST00000458235.5:c.3286G= ENSP00000391676.1:p.Asp1096=
ENST00000527031.5:n.2279-1522G=
ENST00000527670.5:c.3286G= ENSP00000432511.1:p.Asp1096=
NM_000215.3:c.3286G= , LRG_77t1:c.3286G= NP_000206.2:p.Asp1096=
XM_005259896.2:c.3415G= XP_005259953.1:p.Asp1139=
XM_006722745.2:c.3286G= XP_006722808.1:p.Asp1096=
XM_005259896.3:c.3415G= XP_005259953.1:p.Asp1139=
NM_000215.4:c.3286G= MANE Select NP_000206.2:p.Asp1096=