Canonical Allele Identifier: CA506003841

Gene: JAK3

Linked Data

• dbSNP Id: rs2147681580
• COSMIC: COSM992923 ; COSM1153333
• MyVariant Identifiers: chr19:g.17945447G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834638G>T , CM000681.2:g.17834638G>T	GRCh38
NC_000019.9:g.17945447G>T , CM000681.1:g.17945447G>T	GRCh37
NC_000019.8:g.17806447G>T	NCBI36
NG_007273.1:g.18354C>A , LRG_77:g.18354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*840C>A	ENSP00000513006.1:n.*840C>A
ENST00000696967.1:n.1460C>A
ENST00000696970.1:n.938C>A
ENST00000458235.7:c.2283C>A MANE Select	ENSP00000391676.1:p.Ala761=
ENST00000458235.5:c.2283C>A	ENSP00000391676.1:p.Ala761=
ENST00000527031.5:n.2278+2089C>A
ENST00000527670.5:c.2283C>A	ENSP00000432511.1:p.Ala761=
ENST00000534444.1:c.2283C>A	ENSP00000436421.1:p.Ala761=
NM_000215.3:c.2283C>A , LRG_77t1:c.2283C>A	NP_000206.2:p.Ala761=
XM_005259896.2:c.2412C>A	XP_005259953.1:p.Ala804=
XM_006722745.2:c.2283C>A	XP_006722808.1:p.Ala761=
XM_011527990.1:c.2412C>A	XP_011526292.1:p.Ala804=
XR_430137.2:n.2422C>A
XM_005259896.3:c.2412C>A	XP_005259953.1:p.Ala804=
NM_000215.4:c.2283C>A MANE Select	NP_000206.2:p.Ala761=