Canonical Allele Identifier: CA9301686

Gene: JAK3

Linked Data

• ClinVar Variation Id: 328507
• ClinVar RCV Id: RCV000901791
• dbSNP Id: rs145377049
• ExAC: 19:17945781 G / A
• gnomAD v2: 19-17945781-G-A
• gnomAD v3: 19-17834972-G-A
• gnomAD v4: 19-17834972-G-A
• MyVariant Identifiers: chr19:g.17945781G>A (hg19) ; chr19:g.17834972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834972G>A , CM000681.2:g.17834972G>A	GRCh38
NC_000019.9:g.17945781G>A , CM000681.1:g.17945781G>A	GRCh37
NC_000019.8:g.17806781G>A	NCBI36
NG_007273.1:g.18020C>T , LRG_77:g.18020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*636C>T	ENSP00000513006.1:n.*636C>T
ENST00000696967.1:n.1256C>T
ENST00000696970.1:n.734C>T
ENST00000458235.7:c.2079C>T MANE Select	ENSP00000391676.1:p.Pro693=
ENST00000458235.5:c.2079C>T	ENSP00000391676.1:p.Pro693=
ENST00000527031.5:n.2278+1755C>T
ENST00000527670.5:c.2079C>T	ENSP00000432511.1:p.Pro693=
ENST00000534444.1:c.2079C>T	ENSP00000436421.1:p.Pro693=
NM_000215.3:c.2079C>T , LRG_77t1:c.2079C>T	NP_000206.2:p.Pro693=
XM_005259896.2:c.2208C>T	XP_005259953.1:p.Pro736=
XM_006722745.2:c.2079C>T	XP_006722808.1:p.Pro693=
XM_011527990.1:c.2208C>T	XP_011526292.1:p.Pro736=
XR_430137.2:n.2218C>T
XM_005259896.3:c.2208C>T	XP_005259953.1:p.Pro736=
NM_000215.4:c.2079C>T MANE Select	NP_000206.2:p.Pro693=