Canonical Allele Identifier: CA404763145
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1497167
ClinVar RCV Id: RCV002019759 RCV004526895
dbSNP Id: rs2094204878
gnomAD v3: 19-17826864-C-T
gnomAD v4: 19-17826864-C-T
COSMIC: COSM3403933 COSM3403934
MyVariant Identifiers: chr19:g.17937673C>T (hg19) chr19:g.17826864C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826864C>T , CM000681.2:g.17826864C>T GRCh38
NC_000019.9:g.17937673C>T , CM000681.1:g.17937673C>T GRCh37
NC_000019.8:g.17798673C>T NCBI36
NG_007273.1:g.26128G>A , LRG_77:g.26128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1811G>A ENSP00000513006.1:n.*1811G>A
ENST00000696967.1:n.2431G>A
ENST00000696968.1:n.487G>A
ENST00000696969.1:n.2211G>A
ENST00000458235.7:c.3254G>A MANE Select ENSP00000391676.1:p.Arg1085Gln
ENST00000458235.5:c.3254G>A ENSP00000391676.1:p.Arg1085Gln
ENST00000527031.5:n.2279-1554G>A
ENST00000527670.5:c.3254G>A ENSP00000432511.1:p.Arg1085Gln
NM_000215.3:c.3254G>A , LRG_77t1:c.3254G>A NP_000206.2:p.Arg1085Gln
XM_005259896.2:c.3383G>A XP_005259953.1:p.Arg1128Gln
XM_006722745.2:c.3254G>A XP_006722808.1:p.Arg1085Gln
XM_005259896.3:c.3383G>A XP_005259953.1:p.Arg1128Gln
NM_000215.4:c.3254G>A MANE Select NP_000206.2:p.Arg1085Gln
Search 100 bp 5'
Search 100 bp 3'