Canonical Allele Identifier: CA404763239
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475913
ClinVar RCV Id: RCV001977659
dbSNP Id: rs752088869
gnomAD v4: 19-17826904-C-G
MyVariant Identifiers: chr19:g.17937713C>G (hg19) chr19:g.17826904C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826904C>G , CM000681.2:g.17826904C>G GRCh38
NC_000019.9:g.17937713C>G , CM000681.1:g.17937713C>G GRCh37
NC_000019.8:g.17798713C>G NCBI36
NG_007273.1:g.26088G>C , LRG_77:g.26088G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1771G>C ENSP00000513006.1:n.*1771G>C
ENST00000696967.1:n.2391G>C
ENST00000696968.1:n.447G>C
ENST00000696969.1:n.2171G>C
ENST00000458235.7:c.3214G>C MANE Select ENSP00000391676.1:p.Glu1072Gln
ENST00000458235.5:c.3214G>C ENSP00000391676.1:p.Glu1072Gln
ENST00000527031.5:n.2279-1594G>C
ENST00000527670.5:c.3214G>C ENSP00000432511.1:p.Glu1072Gln
NM_000215.3:c.3214G>C , LRG_77t1:c.3214G>C NP_000206.2:p.Glu1072Gln
XM_005259896.2:c.3343G>C XP_005259953.1:p.Glu1115Gln
XM_006722745.2:c.3214G>C XP_006722808.1:p.Glu1072Gln
XM_005259896.3:c.3343G>C XP_005259953.1:p.Glu1115Gln
NM_000215.4:c.3214G>C MANE Select NP_000206.2:p.Glu1072Gln
Search 100 bp 5'
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