Canonical Allele Identifier: CA9301366
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 532754
ClinVar RCV Id: RCV000639642
dbSNP Id: rs757910571
ExAC: 19:17937714 G / A
gnomAD v2: 19-17937714-G-A
gnomAD v3: 19-17826905-G-A
gnomAD v4: 19-17826905-G-A
MyVariant Identifiers: chr19:g.17937714G>A (hg19) chr19:g.17826905G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826905G>A , CM000681.2:g.17826905G>A GRCh38
NC_000019.9:g.17937714G>A , CM000681.1:g.17937714G>A GRCh37
NC_000019.8:g.17798714G>A NCBI36
NG_007273.1:g.26087C>T , LRG_77:g.26087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1770C>T ENSP00000513006.1:n.*1770C>T
ENST00000696967.1:n.2390C>T
ENST00000696968.1:n.446C>T
ENST00000696969.1:n.2170C>T
ENST00000458235.7:c.3213C>T MANE Select ENSP00000391676.1:p.His1071=
ENST00000458235.5:c.3213C>T ENSP00000391676.1:p.His1071=
ENST00000527031.5:n.2279-1595C>T
ENST00000527670.5:c.3213C>T ENSP00000432511.1:p.His1071=
NM_000215.3:c.3213C>T , LRG_77t1:c.3213C>T NP_000206.2:p.His1071=
XM_005259896.2:c.3342C>T XP_005259953.1:p.His1114=
XM_006722745.2:c.3213C>T XP_006722808.1:p.His1071=
XM_005259896.3:c.3342C>T XP_005259953.1:p.His1114=
NM_000215.4:c.3213C>T MANE Select NP_000206.2:p.His1071=
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