Canonical Allele Identifier: CA404763030
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937616C>T (hg19) chr19:g.17826807C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826807C>T , CM000681.2:g.17826807C>T GRCh38
NC_000019.9:g.17937616C>T , CM000681.1:g.17937616C>T GRCh37
NC_000019.8:g.17798616C>T NCBI36
NG_007273.1:g.26185G>A , LRG_77:g.26185G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1868G>A ENSP00000513006.1:n.*1868G>A
ENST00000696967.1:n.2488G>A
ENST00000696968.1:n.544G>A
ENST00000696969.1:n.2268G>A
ENST00000458235.7:c.3311G>A MANE Select ENSP00000391676.1:p.Gly1104Glu
ENST00000458235.5:c.3311G>A ENSP00000391676.1:p.Gly1104Glu
ENST00000527031.5:n.2279-1497G>A
ENST00000527670.5:c.3311G>A ENSP00000432511.1:p.Gly1104Glu
NM_000215.3:c.3311G>A , LRG_77t1:c.3311G>A NP_000206.2:p.Gly1104Glu
XM_005259896.2:c.3440G>A XP_005259953.1:p.Gly1147Glu
XM_006722745.2:c.3311G>A XP_006722808.1:p.Gly1104Glu
XM_005259896.3:c.3440G>A XP_005259953.1:p.Gly1147Glu
NM_000215.4:c.3311G>A MANE Select NP_000206.2:p.Gly1104Glu
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