Canonical Allele Identifier: CA404763039
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669860
MyVariant Identifiers: chr19:g.17937622C>A (hg19) chr19:g.17826813C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826813C>A , CM000681.2:g.17826813C>A GRCh38
NC_000019.9:g.17937622C>A , CM000681.1:g.17937622C>A GRCh37
NC_000019.8:g.17798622C>A NCBI36
NG_007273.1:g.26179G>T , LRG_77:g.26179G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1862G>T ENSP00000513006.1:n.*1862G>T
ENST00000696967.1:n.2482G>T
ENST00000696968.1:n.538G>T
ENST00000696969.1:n.2262G>T
ENST00000458235.7:c.3305G>T MANE Select ENSP00000391676.1:p.Ser1102Ile
ENST00000458235.5:c.3305G>T ENSP00000391676.1:p.Ser1102Ile
ENST00000527031.5:n.2279-1503G>T
ENST00000527670.5:c.3305G>T ENSP00000432511.1:p.Ser1102Ile
NM_000215.3:c.3305G>T , LRG_77t1:c.3305G>T NP_000206.2:p.Ser1102Ile
XM_005259896.2:c.3434G>T XP_005259953.1:p.Ser1145Ile
XM_006722745.2:c.3305G>T XP_006722808.1:p.Ser1102Ile
XM_005259896.3:c.3434G>T XP_005259953.1:p.Ser1145Ile
NM_000215.4:c.3305G>T MANE Select NP_000206.2:p.Ser1102Ile
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