Canonical Allele Identifier: CA2326051011
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17829640G= , CM000681.2:g.17829640G= GRCh38
NC_000019.9:g.17940449G= , CM000681.1:g.17940449G= GRCh37
NC_000019.8:g.17801449G= NCBI36
NG_007273.1:g.23352C= , LRG_77:g.23352C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1764+468C= ENSP00000513006.1:n.*1764+468C=
ENST00000696967.1:n.2384+468C=
ENST00000696968.1:n.440+468C=
ENST00000696969.1:n.2164+468C=
ENST00000458235.7:c.3207+468C= MANE Select ENSP00000391676.1:n.3207+468C=
ENST00000458235.5:c.3207+468C= ENSP00000391676.1:n.3207+468C=
ENST00000527031.5:n.2279-4330C=
ENST00000527670.5:c.3207+468C= ENSP00000432511.1:n.3207+468C=
NM_000215.3:c.3207+468C= , LRG_77t1:c.3207+468C= NP_000206.2:n.3207+468C=
XM_005259896.2:c.3336+468C= XP_005259953.1:n.3336+468C=
XM_006722745.2:c.3207+468C= XP_006722808.1:n.3207+468C=
XM_005259896.3:c.3336+468C= XP_005259953.1:n.3336+468C=
NM_000215.4:c.3207+468C= MANE Select NP_000206.2:n.3207+468C=