Canonical Allele Identifier: CA9301679

Gene: JAK3

Linked Data

• ClinVar Variation Id: 639761
• ClinVar RCV Id: RCV000792655
• dbSNP Id: rs772117537
• ExAC: 19:17945755 A / G
• gnomAD v2: 19-17945755-A-G
• gnomAD v3: 19-17834946-A-G
• gnomAD v4: 19-17834946-A-G
• MyVariant Identifiers: chr19:g.17945755A>G (hg19) ; chr19:g.17834946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834946A>G , CM000681.2:g.17834946A>G	GRCh38
NC_000019.9:g.17945755A>G , CM000681.1:g.17945755A>G	GRCh37
NC_000019.8:g.17806755A>G	NCBI36
NG_007273.1:g.18046T>C , LRG_77:g.18046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*662T>C	ENSP00000513006.1:n.*662T>C
ENST00000696967.1:n.1282T>C
ENST00000696970.1:n.760T>C
ENST00000458235.7:c.2105T>C MANE Select	ENSP00000391676.1:p.Leu702Pro
ENST00000458235.5:c.2105T>C	ENSP00000391676.1:p.Leu702Pro
ENST00000527031.5:n.2278+1781T>C
ENST00000527670.5:c.2105T>C	ENSP00000432511.1:p.Leu702Pro
ENST00000534444.1:c.2105T>C	ENSP00000436421.1:p.Leu702Pro
NM_000215.3:c.2105T>C , LRG_77t1:c.2105T>C	NP_000206.2:p.Leu702Pro
XM_005259896.2:c.2234T>C	XP_005259953.1:p.Leu745Pro
XM_006722745.2:c.2105T>C	XP_006722808.1:p.Leu702Pro
XM_011527990.1:c.2234T>C	XP_011526292.1:p.Leu745Pro
XR_430137.2:n.2244T>C
XM_005259896.3:c.2234T>C	XP_005259953.1:p.Leu745Pro
NM_000215.4:c.2105T>C MANE Select	NP_000206.2:p.Leu702Pro