Canonical Allele Identifier: CA506004127

Gene: JAK3

Linked Data

• dbSNP Id: rs2147686130
• gnomAD v4: 19-17837160-C-T
• MyVariant Identifiers: chr19:g.17947969C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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