Canonical Allele Identifier: CA404767433
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2756878
ClinVar RCV Id: RCV003510050
dbSNP Id: rs2147681671

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834660A>G , CM000681.2:g.17834660A>G GRCh38
NC_000019.9:g.17945469A>G , CM000681.1:g.17945469A>G GRCh37
NC_000019.8:g.17806469A>G NCBI36
NG_007273.1:g.18332T>C , LRG_77:g.18332T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*818T>C ENSP00000513006.1:n.*818T>C
ENST00000696967.1:n.1438T>C
ENST00000696970.1:n.916T>C
ENST00000458235.7:c.2261T>C MANE Select ENSP00000391676.1:p.Leu754Pro
ENST00000458235.5:c.2261T>C ENSP00000391676.1:p.Leu754Pro
ENST00000527031.5:n.2278+2067T>C
ENST00000527670.5:c.2261T>C ENSP00000432511.1:p.Leu754Pro
ENST00000534444.1:c.2261T>C ENSP00000436421.1:p.Leu754Pro
NM_000215.3:c.2261T>C , LRG_77t1:c.2261T>C NP_000206.2:p.Leu754Pro
XM_005259896.2:c.2390T>C XP_005259953.1:p.Leu797Pro
XM_006722745.2:c.2261T>C XP_006722808.1:p.Leu754Pro
XM_011527990.1:c.2390T>C XP_011526292.1:p.Leu797Pro
XR_430137.2:n.2400T>C
XM_005259896.3:c.2390T>C XP_005259953.1:p.Leu797Pro
NM_000215.4:c.2261T>C MANE Select NP_000206.2:p.Leu754Pro