Canonical Allele Identifier: CA14698718
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 892390
ClinVar RCV Id: RCV001128367 RCV002292610
dbSNP Id: rs149873298
gnomAD v2: 19-17937479-A-G
gnomAD v3: 19-17826670-A-G
gnomAD v4: 19-17826670-A-G
MyVariant Identifiers: chr19:g.17937479A>G (hg19) chr19:g.17826670A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826670A>G , CM000681.2:g.17826670A>G GRCh38
NC_000019.9:g.17937479A>G , CM000681.1:g.17937479A>G GRCh37
NC_000019.8:g.17798479A>G NCBI36
NG_007273.1:g.26322T>C , LRG_77:g.26322T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2005T>C ENSP00000513006.1:n.*2005T>C
ENST00000696967.1:n.2625T>C
ENST00000696968.1:n.681T>C
ENST00000696969.1:n.2405T>C
ENST00000458235.7:c.*73T>C MANE Select ENSP00000391676.1:n.*73T>C
ENST00000458235.5:c.*73T>C ENSP00000391676.1:n.*73T>C
ENST00000527031.5:n.2279-1360T>C
ENST00000527670.5:c.*73T>C ENSP00000432511.1:n.*73T>C
NM_000215.3:c.*73T>C , LRG_77t1:c.*73T>C NP_000206.2:n.*73T>C
XM_005259896.2:c.*73T>C XP_005259953.1:n.*73T>C
XM_006722745.2:c.*73T>C XP_006722808.1:n.*73T>C
XM_005259896.3:c.*73T>C XP_005259953.1:n.*73T>C
NM_000215.4:c.*73T>C MANE Select NP_000206.2:n.*73T>C
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