Canonical Allele Identifier: CA506002649
Gene: JAK3 HGNC NCBI

Linked Data

COSMIC: COSM992916 COSM1589888
MyVariant Identifiers: chr19:g.17937711C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826902C>T , CM000681.2:g.17826902C>T GRCh38
NC_000019.9:g.17937711C>T , CM000681.1:g.17937711C>T GRCh37
NC_000019.8:g.17798711C>T NCBI36
NG_007273.1:g.26090G>A , LRG_77:g.26090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1773G>A ENSP00000513006.1:n.*1773G>A
ENST00000696967.1:n.2393G>A
ENST00000696968.1:n.449G>A
ENST00000696969.1:n.2173G>A
ENST00000458235.7:c.3216G>A MANE Select ENSP00000391676.1:p.Glu1072=
ENST00000458235.5:c.3216G>A ENSP00000391676.1:p.Glu1072=
ENST00000527031.5:n.2279-1592G>A
ENST00000527670.5:c.3216G>A ENSP00000432511.1:p.Glu1072=
NM_000215.3:c.3216G>A , LRG_77t1:c.3216G>A NP_000206.2:p.Glu1072=
XM_005259896.2:c.3345G>A XP_005259953.1:p.Glu1115=
XM_006722745.2:c.3216G>A XP_006722808.1:p.Glu1072=
XM_005259896.3:c.3345G>A XP_005259953.1:p.Glu1115=
NM_000215.4:c.3216G>A MANE Select NP_000206.2:p.Glu1072=
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