Canonical Allele Identifier: CA506105645

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2840128
• ClinVar RCV Id: RCV003623047
• dbSNP Id: rs1341117278
• gnomAD v3: 19-17834984-G-A
• gnomAD v4: 19-17834984-G-A
• COSMIC: COSM5652226 ; COSM5652227
• MyVariant Identifiers: chr19:g.17945793G>A (hg19) ; chr19:g.17834984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834984G>A , CM000681.2:g.17834984G>A	GRCh38
NC_000019.9:g.17945793G>A , CM000681.1:g.17945793G>A	GRCh37
NC_000019.8:g.17806793G>A	NCBI36
NG_007273.1:g.18008C>T , LRG_77:g.18008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*624C>T	ENSP00000513006.1:n.*624C>T
ENST00000696967.1:n.1244C>T
ENST00000696970.1:n.722C>T
ENST00000458235.7:c.2067C>T MANE Select	ENSP00000391676.1:p.Pro689=
ENST00000458235.5:c.2067C>T	ENSP00000391676.1:p.Pro689=
ENST00000527031.5:n.2278+1743C>T
ENST00000527670.5:c.2067C>T	ENSP00000432511.1:p.Pro689=
ENST00000534444.1:c.2067C>T	ENSP00000436421.1:p.Pro689=
NM_000215.3:c.2067C>T , LRG_77t1:c.2067C>T	NP_000206.2:p.Pro689=
XM_005259896.2:c.2196C>T	XP_005259953.1:p.Pro732=
XM_006722745.2:c.2067C>T	XP_006722808.1:p.Pro689=
XM_011527990.1:c.2196C>T	XP_011526292.1:p.Pro732=
XR_430137.2:n.2206C>T
XM_005259896.3:c.2196C>T	XP_005259953.1:p.Pro732=
NM_000215.4:c.2067C>T MANE Select	NP_000206.2:p.Pro689=