Canonical Allele Identifier: CA160219

Gene: JAK3

Linked Data

• ClinVar Variation Id: 134571
• ClinVar RCV Id: RCV000121260 ; RCV000335092
• dbSNP Id: rs35785705
• ExAC: 19:17945798 T / A
• gnomAD v2: 19-17945798-T-A
• gnomAD v3: 19-17834989-T-A
• gnomAD v4: 19-17834989-T-A
• MyVariant Identifiers: chr19:g.17945798T>A (hg19) ; chr19:g.17834989T>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834989T>A , CM000681.2:g.17834989T>A	GRCh38
NC_000019.9:g.17945798T>A , CM000681.1:g.17945798T>A	GRCh37
NC_000019.8:g.17806798T>A	NCBI36
NG_007273.1:g.18003A>T , LRG_77:g.18003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*619A>T	ENSP00000513006.1:n.*619A>T
ENST00000696967.1:n.1239A>T
ENST00000696970.1:n.717A>T
ENST00000458235.7:c.2062A>T MANE Select	ENSP00000391676.1:p.Ile688Phe
ENST00000458235.5:c.2062A>T	ENSP00000391676.1:p.Ile688Phe
ENST00000527031.5:n.2278+1738A>T
ENST00000527670.5:c.2062A>T	ENSP00000432511.1:p.Ile688Phe
ENST00000534444.1:c.2062A>T	ENSP00000436421.1:p.Ile688Phe
NM_000215.3:c.2062A>T , LRG_77t1:c.2062A>T	NP_000206.2:p.Ile688Phe
XM_005259896.2:c.2191A>T	XP_005259953.1:p.Ile731Phe
XM_006722745.2:c.2062A>T	XP_006722808.1:p.Ile688Phe
XM_011527990.1:c.2191A>T	XP_011526292.1:p.Ile731Phe
XR_430137.2:n.2201A>T
XM_005259896.3:c.2191A>T	XP_005259953.1:p.Ile731Phe
NM_000215.4:c.2062A>T MANE Select	NP_000206.2:p.Ile688Phe