Canonical Allele Identifier: CA160246
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134580
dbSNP Id: rs3212723
COSMIC: COSM34216

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843406G>T , CM000681.2:g.17843406G>T GRCh38
NC_000019.9:g.17954215G>T , CM000681.1:g.17954215G>T GRCh37
NC_000019.8:g.17815215G>T NCBI36
NG_007273.1:g.9586C>A , LRG_77:g.9586C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.394C>A ENSP00000513006.1:p.Pro132Thr
ENST00000458235.7:c.394C>A MANE Select ENSP00000391676.1:p.Pro132Thr
ENST00000458235.5:c.394C>A ENSP00000391676.1:p.Pro132Thr
ENST00000526008.5:n.494C>A
ENST00000527031.5:n.484C>A
ENST00000527670.5:c.394C>A ENSP00000432511.1:p.Pro132Thr
ENST00000528293.1:n.409C>A
ENST00000534444.1:c.394C>A ENSP00000436421.1:p.Pro132Thr
NM_000215.3:c.394C>A , LRG_77t1:c.394C>A NP_000206.2:p.Pro132Thr
XM_005259896.2:c.523C>A XP_005259953.1:p.Pro175Thr
XM_006722745.2:c.394C>A XP_006722808.1:p.Pro132Thr
XM_011527990.1:c.523C>A XP_011526292.1:p.Pro175Thr
XM_011527991.1:c.523C>A XP_011526293.1:p.Pro175Thr
XR_430137.2:n.533C>A
XM_005259896.3:c.523C>A XP_005259953.1:p.Pro175Thr
XM_011527991.2:c.523C>A XP_011526293.1:p.Pro175Thr
NM_000215.4:c.394C>A MANE Select NP_000206.2:p.Pro132Thr