Canonical Allele Identifier: CA214091
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 36419
dbSNP Id: rs2230589

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17832574G>A , CM000681.2:g.17832574G>A GRCh38
NC_000019.9:g.17943383G>A , CM000681.1:g.17943383G>A GRCh37
NC_000019.8:g.17804383G>A NCBI36
NG_007273.1:g.20418C>T , LRG_77:g.20418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1182C>T ENSP00000513006.1:n.*1182C>T
ENST00000696967.1:n.1802C>T
ENST00000696969.1:n.862C>T
ENST00000696970.1:n.1280C>T
ENST00000458235.7:c.2625C>T MANE Select ENSP00000391676.1:p.Leu875=
ENST00000458235.5:c.2625C>T ENSP00000391676.1:p.Leu875=
ENST00000527031.5:n.2278+4153C>T
ENST00000527670.5:c.2625C>T ENSP00000432511.1:p.Leu875=
ENST00000534444.1:c.2625C>T ENSP00000436421.1:p.Leu875=
NM_000215.3:c.2625C>T , LRG_77t1:c.2625C>T NP_000206.2:p.Leu875=
XM_005259896.2:c.2754C>T XP_005259953.1:p.Leu918=
XM_006722745.2:c.2625C>T XP_006722808.1:p.Leu875=
XR_430137.2:n.2764C>T
XM_005259896.3:c.2754C>T XP_005259953.1:p.Leu918=
NM_000215.4:c.2625C>T MANE Select NP_000206.2:p.Leu875=