Canonical Allele Identifier: CA16608977
Gene: JAK3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 381576
ClinVar RCV Id: RCV000441083
dbSNP Id: rs201233697

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843451G>A , CM000681.2:g.17843451G>A GRCh38
NC_000019.9:g.17954260G>A , CM000681.1:g.17954260G>A GRCh37
NC_000019.8:g.17815260G>A NCBI36
NG_007273.1:g.9541C>T , LRG_77:g.9541C>T

Transcript Alleles

HGVS Amino-acid change
NM_000215.3:c.349C>T , LRG_77t1:c.349C>T NP_000206.2:p.Arg117Cys
XM_005259896.2:c.478C>T XP_005259953.1:p.Arg160Cys
XM_006722745.2:c.349C>T XP_006722808.1:p.Arg117Cys
XM_011527990.1:c.478C>T XP_011526292.1:p.Arg160Cys
XM_011527991.1:c.478C>T XP_011526293.1:p.Arg160Cys
XR_430137.2:n.488C>T
XM_005259896.3:c.478C>T XP_005259953.1:p.Arg160Cys
XM_011527991.2:c.478C>T XP_011526293.1:p.Arg160Cys
ENST00000458235.5:c.349C>T ENSP00000391676.1:p.Arg117Cys
ENST00000526008.5:n.449C>T
ENST00000527031.5:n.439C>T
ENST00000527670.5:c.349C>T ENSP00000432511.1:p.Arg117Cys
ENST00000528293.1:n.364C>T
ENST00000534444.1:c.349C>T ENSP00000436421.1:p.Arg117Cys