Canonical Allele Identifier: CA404767400

Gene: JAK3

Linked Data

• dbSNP Id: rs2094220561
• gnomAD v3: 19-17834645-C-T
• gnomAD v4: 19-17834645-C-T
• MyVariant Identifiers: chr19:g.17945454C>T (hg19) ; chr19:g.17834645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834645C>T , CM000681.2:g.17834645C>T	GRCh38
NC_000019.9:g.17945454C>T , CM000681.1:g.17945454C>T	GRCh37
NC_000019.8:g.17806454C>T	NCBI36
NG_007273.1:g.18347G>A , LRG_77:g.18347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*833G>A	ENSP00000513006.1:n.*833G>A
ENST00000696967.1:n.1453G>A
ENST00000696970.1:n.931G>A
ENST00000458235.7:c.2276G>A MANE Select	ENSP00000391676.1:p.Cys759Tyr
ENST00000458235.5:c.2276G>A	ENSP00000391676.1:p.Cys759Tyr
ENST00000527031.5:n.2278+2082G>A
ENST00000527670.5:c.2276G>A	ENSP00000432511.1:p.Cys759Tyr
ENST00000534444.1:c.2276G>A	ENSP00000436421.1:p.Cys759Tyr
NM_000215.3:c.2276G>A , LRG_77t1:c.2276G>A	NP_000206.2:p.Cys759Tyr
XM_005259896.2:c.2405G>A	XP_005259953.1:p.Cys802Tyr
XM_006722745.2:c.2276G>A	XP_006722808.1:p.Cys759Tyr
XM_011527990.1:c.2405G>A	XP_011526292.1:p.Cys802Tyr
XR_430137.2:n.2415G>A
XM_005259896.3:c.2405G>A	XP_005259953.1:p.Cys802Tyr
NM_000215.4:c.2276G>A MANE Select	NP_000206.2:p.Cys759Tyr