Canonical Allele Identifier: CA120300
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 9360
ClinVar RCV Id: RCV000009954
dbSNP Id: rs137852624

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843786T>C , CM000681.2:g.17843786T>C GRCh38
NC_000019.9:g.17954595T>C , CM000681.1:g.17954595T>C GRCh37
NC_000019.8:g.17815595T>C NCBI36
NG_007273.1:g.9206A>G , LRG_77:g.9206A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.299A>G ENSP00000513006.1:p.Tyr100Cys
ENST00000458235.7:c.299A>G MANE Select ENSP00000391676.1:p.Tyr100Cys
ENST00000458235.5:c.299A>G ENSP00000391676.1:p.Tyr100Cys
ENST00000526008.5:n.399A>G
ENST00000527031.5:n.389A>G
ENST00000527670.5:c.299A>G ENSP00000432511.1:p.Tyr100Cys
ENST00000528293.1:n.324-295A>G
ENST00000534444.1:c.299A>G ENSP00000436421.1:p.Tyr100Cys
NM_000215.3:c.299A>G , LRG_77t1:c.299A>G NP_000206.2:p.Tyr100Cys
XM_005259896.2:c.428A>G XP_005259953.1:p.Tyr143Cys
XM_006722745.2:c.299A>G XP_006722808.1:p.Tyr100Cys
XM_011527990.1:c.428A>G XP_011526292.1:p.Tyr143Cys
XM_011527991.1:c.428A>G XP_011526293.1:p.Tyr143Cys
XR_430137.2:n.438A>G
XM_005259896.3:c.428A>G XP_005259953.1:p.Tyr143Cys
XM_011527991.2:c.428A>G XP_011526293.1:p.Tyr143Cys
NM_000215.4:c.299A>G MANE Select NP_000206.2:p.Tyr100Cys