Canonical Allele Identifier: CA2326051192
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17829979C= , CM000681.2:g.17829979C= GRCh38
NC_000019.9:g.17940788C= , CM000681.1:g.17940788C= GRCh37
NC_000019.8:g.17801788C= NCBI36
NG_007273.1:g.23013G= , LRG_77:g.23013G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1764+129G= ENSP00000513006.1:n.*1764+129G=
ENST00000696967.1:n.2384+129G=
ENST00000696968.1:n.440+129G=
ENST00000696969.1:n.2164+129G=
ENST00000458235.7:c.3207+129G= MANE Select ENSP00000391676.1:n.3207+129G=
ENST00000458235.5:c.3207+129G= ENSP00000391676.1:n.3207+129G=
ENST00000527031.5:n.2279-4669G=
ENST00000527670.5:c.3207+129G= ENSP00000432511.1:n.3207+129G=
ENST00000534444.1:c.*51G= ENSP00000436421.1:n.*51G=
NM_000215.3:c.3207+129G= , LRG_77t1:c.3207+129G= NP_000206.2:n.3207+129G=
XM_005259896.2:c.3336+129G= XP_005259953.1:n.3336+129G=
XM_006722745.2:c.3207+129G= XP_006722808.1:n.3207+129G=
XM_005259896.3:c.3336+129G= XP_005259953.1:n.3336+129G=
NM_000215.4:c.3207+129G= MANE Select NP_000206.2:n.3207+129G=