Canonical Allele Identifier: CA632135942

Gene: JAK3

Linked Data

• dbSNP Id: rs1185581222
• gnomAD v2: 19-17953856-TC-T
• gnomAD v4: 19-17843047-TC-T
• MyVariant Identifiers: chr19:g.17953857del (hg19) ; chr19:g.17843048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843050del , CM000681.2:g.17843050del	GRCh38
NC_000019.9:g.17953859del , CM000681.1:g.17953859del	GRCh37
NC_000019.8:g.17814859del	NCBI36
NG_007273.1:g.9944del , LRG_77:g.9944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.545del	ENSP00000513006.1:p.Gly182GlufsTer4
ENST00000458235.7:c.545del MANE Select	ENSP00000391676.1:p.Gly182GlufsTer4
ENST00000458235.5:c.545del	ENSP00000391676.1:p.Gly182GlufsTer4
ENST00000526008.5:n.645del
ENST00000527031.5:n.635del
ENST00000527670.5:c.545del	ENSP00000432511.1:p.Gly182GlufsTer4
ENST00000528293.1:n.560del
ENST00000534444.1:c.545del	ENSP00000436421.1:p.Gly182GlufsTer4
NM_000215.3:c.545del , LRG_77t1:c.545del	NP_000206.2:p.Gly182GlufsTer4
XM_005259896.2:c.674del	XP_005259953.1:p.Gly225GlufsTer4
XM_006722745.2:c.545del	XP_006722808.1:p.Gly182GlufsTer4
XM_011527990.1:c.674del	XP_011526292.1:p.Gly225GlufsTer4
XM_011527991.1:c.674del	XP_011526293.1:p.Gly225GlufsTer4
XR_430137.2:n.684del
XM_005259896.3:c.674del	XP_005259953.1:p.Gly225GlufsTer4
XM_011527991.2:c.674del	XP_011526293.1:p.Gly225GlufsTer4
NM_000215.4:c.545del MANE Select	NP_000206.2:p.Gly182GlufsTer4