Canonical Allele Identifier: CA506004125

Gene: JAK3

Linked Data

• ClinVar Variation Id: 1903686
• ClinVar RCV Id: RCV002586543
• gnomAD v4: 19-17837160-C-A
• MyVariant Identifiers: chr19:g.17947969C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837160C>A , CM000681.2:g.17837160C>A	GRCh38
NC_000019.9:g.17947969C>A , CM000681.1:g.17947969C>A	GRCh37
NC_000019.8:g.17808969C>A	NCBI36
NG_007273.1:g.15832G>T , LRG_77:g.15832G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*312G>T	ENSP00000513006.1:n.*312G>T
ENST00000696967.1:n.932G>T
ENST00000696970.1:n.410G>T
ENST00000458235.7:c.1755G>T MANE Select	ENSP00000391676.1:p.Val585=
ENST00000458235.5:c.1755G>T	ENSP00000391676.1:p.Val585=
ENST00000527031.5:n.1845G>T
ENST00000527670.5:c.1755G>T	ENSP00000432511.1:p.Val585=
ENST00000534444.1:c.1755G>T	ENSP00000436421.1:p.Val585=
NM_000215.3:c.1755G>T , LRG_77t1:c.1755G>T	NP_000206.2:p.Val585=
XM_005259896.2:c.1884G>T	XP_005259953.1:p.Val628=
XM_006722745.2:c.1755G>T	XP_006722808.1:p.Val585=
XM_011527990.1:c.1884G>T	XP_011526292.1:p.Val628=
XM_011527991.1:c.1884G>T	XP_011526293.1:p.Val628=
XR_430137.2:n.1894G>T
XM_005259896.3:c.1884G>T	XP_005259953.1:p.Val628=
XM_011527991.2:c.1884G>T	XP_011526293.1:p.Val628=
NM_000215.4:c.1755G>T MANE Select	NP_000206.2:p.Val585=