Canonical Allele Identifier: CA306129996

Gene: JAK3

Linked Data

• ClinVar Variation Id: 3020981
• ClinVar RCV Id: RCV003880140
• dbSNP Id: rs745486642
• gnomAD v3: 19-17834996-G-C
• gnomAD v4: 19-17834996-G-C
• MyVariant Identifiers: chr19:g.17945805G>C (hg19) ; chr19:g.17834996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834996G>C , CM000681.2:g.17834996G>C	GRCh38
NC_000019.9:g.17945805G>C , CM000681.1:g.17945805G>C	GRCh37
NC_000019.8:g.17806805G>C	NCBI36
NG_007273.1:g.17996C>G , LRG_77:g.17996C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*612C>G	ENSP00000513006.1:n.*612C>G
ENST00000696967.1:n.1232C>G
ENST00000696970.1:n.710C>G
ENST00000458235.7:c.2055C>G MANE Select	ENSP00000391676.1:p.Thr685=
ENST00000458235.5:c.2055C>G	ENSP00000391676.1:p.Thr685=
ENST00000527031.5:n.2278+1731C>G
ENST00000527670.5:c.2055C>G	ENSP00000432511.1:p.Thr685=
ENST00000534444.1:c.2055C>G	ENSP00000436421.1:p.Thr685=
NM_000215.3:c.2055C>G , LRG_77t1:c.2055C>G	NP_000206.2:p.Thr685=
XM_005259896.2:c.2184C>G	XP_005259953.1:p.Thr728=
XM_006722745.2:c.2055C>G	XP_006722808.1:p.Thr685=
XM_011527990.1:c.2184C>G	XP_011526292.1:p.Thr728=
XR_430137.2:n.2194C>G
XM_005259896.3:c.2184C>G	XP_005259953.1:p.Thr728=
NM_000215.4:c.2055C>G MANE Select	NP_000206.2:p.Thr685=