Canonical Allele Identifier: CA9301660

Gene: JAK3

Linked Data

• dbSNP Id: rs763327012
• ExAC: 19:17945622 T / G
• gnomAD v2: 19-17945622-T-G
• gnomAD v4: 19-17834813-T-G
• MyVariant Identifiers: chr19:g.17945622T>G (hg19) ; chr19:g.17945622_17945623delinsGG (hg19) ; chr19:g.17834813T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834813T>G , CM000681.2:g.17834813T>G	GRCh38
NC_000019.9:g.17945622T>G , CM000681.1:g.17945622T>G	GRCh37
NC_000019.8:g.17806622T>G	NCBI36
NG_007273.1:g.18179A>C , LRG_77:g.18179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*756+39A>C	ENSP00000513006.1:n.*756+39A>C
ENST00000696967.1:n.1376+39A>C
ENST00000696970.1:n.854+39A>C
ENST00000458235.7:c.2199+39A>C MANE Select	ENSP00000391676.1:n.2199+39A>C
ENST00000458235.5:c.2199+39A>C	ENSP00000391676.1:n.2199+39A>C
ENST00000527031.5:n.2278+1914A>C
ENST00000527670.5:c.2199+39A>C	ENSP00000432511.1:n.2199+39A>C
ENST00000534444.1:c.2199+39A>C	ENSP00000436421.1:n.2199+39A>C
NM_000215.3:c.2199+39A>C , LRG_77t1:c.2199+39A>C	NP_000206.2:n.2199+39A>C
XM_005259896.2:c.2328+39A>C	XP_005259953.1:n.2328+39A>C
XM_006722745.2:c.2199+39A>C	XP_006722808.1:n.2199+39A>C
XM_011527990.1:c.2328+39A>C	XP_011526292.1:n.2328+39A>C
XR_430137.2:n.2338+39A>C
XM_005259896.3:c.2328+39A>C	XP_005259953.1:n.2328+39A>C
NM_000215.4:c.2199+39A>C MANE Select	NP_000206.2:n.2199+39A>C