Canonical Allele Identifier: CA9301360
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2466271
ClinVar RCV Id: RCV003190693
dbSNP Id: rs774621426
ExAC: 19:17937658 G / T
gnomAD v2: 19-17937658-G-T
gnomAD v4: 19-17826849-G-T
MyVariant Identifiers: chr19:g.17937658G>T (hg19) chr19:g.17826849G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826849G>T , CM000681.2:g.17826849G>T GRCh38
NC_000019.9:g.17937658G>T , CM000681.1:g.17937658G>T GRCh37
NC_000019.8:g.17798658G>T NCBI36
NG_007273.1:g.26143C>A , LRG_77:g.26143C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1826C>A ENSP00000513006.1:n.*1826C>A
ENST00000696967.1:n.2446C>A
ENST00000696968.1:n.502C>A
ENST00000696969.1:n.2226C>A
ENST00000458235.7:c.3269C>A MANE Select ENSP00000391676.1:p.Ala1090Asp
ENST00000458235.5:c.3269C>A ENSP00000391676.1:p.Ala1090Asp
ENST00000527031.5:n.2279-1539C>A
ENST00000527670.5:c.3269C>A ENSP00000432511.1:p.Ala1090Asp
NM_000215.3:c.3269C>A , LRG_77t1:c.3269C>A NP_000206.2:p.Ala1090Asp
XM_005259896.2:c.3398C>A XP_005259953.1:p.Ala1133Asp
XM_006722745.2:c.3269C>A XP_006722808.1:p.Ala1090Asp
XM_005259896.3:c.3398C>A XP_005259953.1:p.Ala1133Asp
NM_000215.4:c.3269C>A MANE Select NP_000206.2:p.Ala1090Asp
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