Canonical Allele Identifier: CA120306
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 9364
ClinVar RCV Id: RCV000009958
dbSNP Id: rs137852626
gnomAD v2: 19-17950394-G-A
gnomAD v4: 19-17839585-G-A
MyVariant Identifiers: chr19:g.17950394G>A (hg19) chr19:g.17839585G>A (hg38)
ERepo: CA120306/MONDO:0010938/121
PubMed: PMID:10982185
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17839585G>A , CM000681.2:g.17839585G>A GRCh38
NC_000019.9:g.17950394G>A , CM000681.1:g.17950394G>A GRCh37
NC_000019.8:g.17811394G>A NCBI36
NG_007273.1:g.13407C>T , LRG_77:g.13407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.1333C>T ENSP00000513006.1:p.Arg445Ter
ENST00000696967.1:n.510C>T
ENST00000458235.7:c.1333C>T MANE Select ENSP00000391676.1:p.Arg445Ter
ENST00000458235.5:c.1333C>T ENSP00000391676.1:p.Arg445Ter
ENST00000526008.5:n.1433C>T
ENST00000527031.5:n.1423C>T
ENST00000527670.5:c.1333C>T ENSP00000432511.1:p.Arg445Ter
ENST00000528705.1:n.682C>T
ENST00000534444.1:c.1333C>T ENSP00000436421.1:p.Arg445Ter
NM_000215.3:c.1333C>T , LRG_77t1:c.1333C>T NP_000206.2:p.Arg445Ter
XM_005259896.2:c.1462C>T XP_005259953.1:p.Arg488Ter
XM_006722745.2:c.1333C>T XP_006722808.1:p.Arg445Ter
XM_011527990.1:c.1462C>T XP_011526292.1:p.Arg488Ter
XM_011527991.1:c.1462C>T XP_011526293.1:p.Arg488Ter
XR_430137.2:n.1472C>T
XM_005259896.3:c.1462C>T XP_005259953.1:p.Arg488Ter
XM_011527991.2:c.1462C>T XP_011526293.1:p.Arg488Ter
NM_000215.4:c.1333C>T MANE Select NP_000206.2:p.Arg445Ter
Search 100 bp 5'
Search 100 bp 3'