Canonical Allele Identifier: CA9302189

Gene: JAK3

Linked Data

• ClinVar Variation Id: 532755
• ClinVar RCV Id: RCV001410863
• dbSNP Id: rs751336782
• ExAC: 19:17954255 G / A
• gnomAD v2: 19-17954255-G-A
• gnomAD v3: 19-17843446-G-A
• gnomAD v4: 19-17843446-G-A
• MyVariant Identifiers: chr19:g.17954255G>A (hg19) ; chr19:g.17843446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843446G>A , CM000681.2:g.17843446G>A	GRCh38
NC_000019.9:g.17954255G>A , CM000681.1:g.17954255G>A	GRCh37
NC_000019.8:g.17815255G>A	NCBI36
NG_007273.1:g.9546C>T , LRG_77:g.9546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.354C>T	ENSP00000513006.1:p.Phe118=
ENST00000458235.7:c.354C>T MANE Select	ENSP00000391676.1:p.Phe118=
ENST00000458235.5:c.354C>T	ENSP00000391676.1:p.Phe118=
ENST00000526008.5:n.454C>T
ENST00000527031.5:n.444C>T
ENST00000527670.5:c.354C>T	ENSP00000432511.1:p.Phe118=
ENST00000528293.1:n.369C>T
ENST00000534444.1:c.354C>T	ENSP00000436421.1:p.Phe118=
NM_000215.3:c.354C>T , LRG_77t1:c.354C>T	NP_000206.2:p.Phe118=
XM_005259896.2:c.483C>T	XP_005259953.1:p.Phe161=
XM_006722745.2:c.354C>T	XP_006722808.1:p.Phe118=
XM_011527990.1:c.483C>T	XP_011526292.1:p.Phe161=
XM_011527991.1:c.483C>T	XP_011526293.1:p.Phe161=
XR_430137.2:n.493C>T
XM_005259896.3:c.483C>T	XP_005259953.1:p.Phe161=
XM_011527991.2:c.483C>T	XP_011526293.1:p.Phe161=
NM_000215.4:c.354C>T MANE Select	NP_000206.2:p.Phe118=