Canonical Allele Identifier: CA9301563
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372390
ClinVar RCV Id: RCV000414420 RCV000639629
dbSNP Id: rs3179893
ExAC: 19:17943372 T / C
gnomAD v2: 19-17943372-T-C
gnomAD v3: 19-17832563-T-C
gnomAD v4: 19-17832563-T-C
MyVariant Identifiers: chr19:g.17943372T>C (hg19) chr19:g.17832563T>C (hg38)
ERepo: CA9301563/MONDO:0010938/121
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17832563T>C , CM000681.2:g.17832563T>C GRCh38
NC_000019.9:g.17943372T>C , CM000681.1:g.17943372T>C GRCh37
NC_000019.8:g.17804372T>C NCBI36
NG_007273.1:g.20429A>G , LRG_77:g.20429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1193A>G ENSP00000513006.1:n.*1193A>G
ENST00000696967.1:n.1813A>G
ENST00000696969.1:n.873A>G
ENST00000696970.1:n.1291A>G
ENST00000458235.7:c.2636A>G MANE Select ENSP00000391676.1:p.His879Arg
ENST00000458235.5:c.2636A>G ENSP00000391676.1:p.His879Arg
ENST00000527031.5:n.2278+4164A>G
ENST00000527670.5:c.2636A>G ENSP00000432511.1:p.His879Arg
ENST00000534444.1:c.2636A>G ENSP00000436421.1:p.His879Arg
NM_000215.3:c.2636A>G , LRG_77t1:c.2636A>G NP_000206.2:p.His879Arg
XM_005259896.2:c.2765A>G XP_005259953.1:p.His922Arg
XM_006722745.2:c.2636A>G XP_006722808.1:p.His879Arg
XR_430137.2:n.2775A>G
XM_005259896.3:c.2765A>G XP_005259953.1:p.His922Arg
NM_000215.4:c.2636A>G MANE Select NP_000206.2:p.His879Arg
Search 100 bp 5'
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