Canonical Allele Identifier: CA9301513
Gene: JAK3 HGNC NCBI
ClinVar RCV:
RCV001122648
ClinVar Variation:
888995
dbSNP:
149452625
gnomAD v2:
19:17942515 G / A
gnomAD v3:
19:17831706 G / A
gnomAD v4:
chr19-17831706-G-A
Joint Max Group AF 0.00023853 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00024494 (NFE)
MyVariant.info:
GRCh38 chr19:g.17831706G>A
GRCh37 chr19:g.17942515G>A
Revel Score:
ENST00000458235 (MANE Select) 0.500
ENST00000527670 0.500
ENST00000534444 0.500
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17831706G>A , CM000681.2:g.17831706G>A GRCh38
NC_000019.9:g.17942515G>A , CM000681.1:g.17942515G>A GRCh37
NC_000019.8:g.17803515G>A NCBI36
NG_007273.1:g.21286C>T , LRG_77:g.21286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1330C>T ENSP00000513006.1:n.*1330C>T
ENST00000696967.1:n.1950C>T
ENST00000696969.1:n.1730C>T
ENST00000458235.7:c.2773C>T MANE Select ENSP00000391676.1:p.Arg925Cys
ENST00000458235.5:c.2773C>T ENSP00000391676.1:p.Arg925Cys
ENST00000527031.5:n.2278+5021C>T
ENST00000527670.5:c.2773C>T ENSP00000432511.1:p.Arg925Cys
ENST00000534444.1:c.2773C>T ENSP00000436421.1:p.Arg925Cys
NM_000215.3:c.2773C>T , LRG_77t1:c.2773C>T NP_000206.2:p.Arg925Cys
XM_005259896.2:c.2902C>T XP_005259953.1:p.Arg968Cys
XM_006722745.2:c.2773C>T XP_006722808.1:p.Arg925Cys
XM_005259896.3:c.2902C>T XP_005259953.1:p.Arg968Cys
NM_000215.4:c.2773C>T MANE Select NP_000206.2:p.Arg925Cys
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