Canonical Allele Identifier: CA404763173
Gene: JAK3 HGNC NCBI

Linked Data

COSMIC: COSM6043246 COSM6043247
MyVariant Identifiers: chr19:g.17937685C>A (hg19) chr19:g.17826876C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826876C>A , CM000681.2:g.17826876C>A GRCh38
NC_000019.9:g.17937685C>A , CM000681.1:g.17937685C>A GRCh37
NC_000019.8:g.17798685C>A NCBI36
NG_007273.1:g.26116G>T , LRG_77:g.26116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1799G>T ENSP00000513006.1:n.*1799G>T
ENST00000696967.1:n.2419G>T
ENST00000696968.1:n.475G>T
ENST00000696969.1:n.2199G>T
ENST00000458235.7:c.3242G>T MANE Select ENSP00000391676.1:p.Ser1081Ile
ENST00000458235.5:c.3242G>T ENSP00000391676.1:p.Ser1081Ile
ENST00000527031.5:n.2279-1566G>T
ENST00000527670.5:c.3242G>T ENSP00000432511.1:p.Ser1081Ile
NM_000215.3:c.3242G>T , LRG_77t1:c.3242G>T NP_000206.2:p.Ser1081Ile
XM_005259896.2:c.3371G>T XP_005259953.1:p.Ser1124Ile
XM_006722745.2:c.3242G>T XP_006722808.1:p.Ser1081Ile
XM_005259896.3:c.3371G>T XP_005259953.1:p.Ser1124Ile
NM_000215.4:c.3242G>T MANE Select NP_000206.2:p.Ser1081Ile
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