Canonical Allele Identifier: CA506002645
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2801557
ClinVar RCV Id: RCV003622472
dbSNP Id: rs2094204914
gnomAD v4: 19-17826893-C-T
MyVariant Identifiers: chr19:g.17937702C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826893C>T , CM000681.2:g.17826893C>T GRCh38
NC_000019.9:g.17937702C>T , CM000681.1:g.17937702C>T GRCh37
NC_000019.8:g.17798702C>T NCBI36
NG_007273.1:g.26099G>A , LRG_77:g.26099G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1782G>A ENSP00000513006.1:n.*1782G>A
ENST00000696967.1:n.2402G>A
ENST00000696968.1:n.458G>A
ENST00000696969.1:n.2182G>A
ENST00000458235.7:c.3225G>A MANE Select ENSP00000391676.1:p.Lys1075=
ENST00000458235.5:c.3225G>A ENSP00000391676.1:p.Lys1075=
ENST00000527031.5:n.2279-1583G>A
ENST00000527670.5:c.3225G>A ENSP00000432511.1:p.Lys1075=
NM_000215.3:c.3225G>A , LRG_77t1:c.3225G>A NP_000206.2:p.Lys1075=
XM_005259896.2:c.3354G>A XP_005259953.1:p.Lys1118=
XM_006722745.2:c.3225G>A XP_006722808.1:p.Lys1075=
XM_005259896.3:c.3354G>A XP_005259953.1:p.Lys1118=
NM_000215.4:c.3225G>A MANE Select NP_000206.2:p.Lys1075=
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