Canonical Allele Identifier: CA9301361
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 706218
ClinVar RCV Id: RCV000876754
dbSNP Id: rs138593705
ExAC: 19:17937660 G / A
gnomAD v2: 19-17937660-G-A
gnomAD v3: 19-17826851-G-A
gnomAD v4: 19-17826851-G-A
COSMIC: COSM992914 COSM1153331
MyVariant Identifiers: chr19:g.17937660G>A (hg19) chr19:g.17826851G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826851G>A , CM000681.2:g.17826851G>A GRCh38
NC_000019.9:g.17937660G>A , CM000681.1:g.17937660G>A GRCh37
NC_000019.8:g.17798660G>A NCBI36
NG_007273.1:g.26141C>T , LRG_77:g.26141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1824C>T ENSP00000513006.1:n.*1824C>T
ENST00000696967.1:n.2444C>T
ENST00000696968.1:n.500C>T
ENST00000696969.1:n.2224C>T
ENST00000458235.7:c.3267C>T MANE Select ENSP00000391676.1:p.Ser1089=
ENST00000458235.5:c.3267C>T ENSP00000391676.1:p.Ser1089=
ENST00000527031.5:n.2279-1541C>T
ENST00000527670.5:c.3267C>T ENSP00000432511.1:p.Ser1089=
NM_000215.3:c.3267C>T , LRG_77t1:c.3267C>T NP_000206.2:p.Ser1089=
XM_005259896.2:c.3396C>T XP_005259953.1:p.Ser1132=
XM_006722745.2:c.3267C>T XP_006722808.1:p.Ser1089=
XM_005259896.3:c.3396C>T XP_005259953.1:p.Ser1132=
NM_000215.4:c.3267C>T MANE Select NP_000206.2:p.Ser1089=
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