Canonical Allele Identifier: CA160243
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134579
ClinVar RCV Id: RCV000121268 RCV000891632 RCV001355102
dbSNP Id: rs144968714
ExAC: 19:17937659 C / T
gnomAD v2: 19-17937659-C-T
gnomAD v3: 19-17826850-C-T
gnomAD v4: 19-17826850-C-T
COSMIC: COSM992912 COSM1589889
MyVariant Identifiers: chr19:g.17937659C>T (hg19) chr19:g.17826850C>T (hg38)
ERepo: CA160243/MONDO:0010938/121
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826850C>T , CM000681.2:g.17826850C>T GRCh38
NC_000019.9:g.17937659C>T , CM000681.1:g.17937659C>T GRCh37
NC_000019.8:g.17798659C>T NCBI36
NG_007273.1:g.26142G>A , LRG_77:g.26142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1825G>A ENSP00000513006.1:n.*1825G>A
ENST00000696967.1:n.2445G>A
ENST00000696968.1:n.501G>A
ENST00000696969.1:n.2225G>A
ENST00000458235.7:c.3268G>A MANE Select ENSP00000391676.1:p.Ala1090Thr
ENST00000458235.5:c.3268G>A ENSP00000391676.1:p.Ala1090Thr
ENST00000527031.5:n.2279-1540G>A
ENST00000527670.5:c.3268G>A ENSP00000432511.1:p.Ala1090Thr
NM_000215.3:c.3268G>A , LRG_77t1:c.3268G>A NP_000206.2:p.Ala1090Thr
XM_005259896.2:c.3397G>A XP_005259953.1:p.Ala1133Thr
XM_006722745.2:c.3268G>A XP_006722808.1:p.Ala1090Thr
XM_005259896.3:c.3397G>A XP_005259953.1:p.Ala1133Thr
NM_000215.4:c.3268G>A MANE Select NP_000206.2:p.Ala1090Thr
Search 100 bp 5'
Search 100 bp 3'