Canonical Allele Identifier: CA506105550

Gene: JAK3

Linked Data

• ClinVar Variation Id: 853115
• ClinVar RCV Id: RCV001057862
• dbSNP Id: rs1473714442
• gnomAD v2: 19-17945718-C-T
• gnomAD v3: 19-17834909-C-T
• gnomAD v4: 19-17834909-C-T
• MyVariant Identifiers: chr19:g.17945718C>T (hg19) ; chr19:g.17834909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834909C>T , CM000681.2:g.17834909C>T	GRCh38
NC_000019.9:g.17945718C>T , CM000681.1:g.17945718C>T	GRCh37
NC_000019.8:g.17806718C>T	NCBI36
NG_007273.1:g.18083G>A , LRG_77:g.18083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*699G>A	ENSP00000513006.1:n.*699G>A
ENST00000696967.1:n.1319G>A
ENST00000696970.1:n.797G>A
ENST00000458235.7:c.2142G>A MANE Select	ENSP00000391676.1:p.Thr714=
ENST00000458235.5:c.2142G>A	ENSP00000391676.1:p.Thr714=
ENST00000527031.5:n.2278+1818G>A
ENST00000527670.5:c.2142G>A	ENSP00000432511.1:p.Thr714=
ENST00000534444.1:c.2142G>A	ENSP00000436421.1:p.Thr714=
NM_000215.3:c.2142G>A , LRG_77t1:c.2142G>A	NP_000206.2:p.Thr714=
XM_005259896.2:c.2271G>A	XP_005259953.1:p.Thr757=
XM_006722745.2:c.2142G>A	XP_006722808.1:p.Thr714=
XM_011527990.1:c.2271G>A	XP_011526292.1:p.Thr757=
XR_430137.2:n.2281G>A
XM_005259896.3:c.2271G>A	XP_005259953.1:p.Thr757=
NM_000215.4:c.2142G>A MANE Select	NP_000206.2:p.Thr714=