Canonical Allele Identifier: CA506002581
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937594A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826785A>T , CM000681.2:g.17826785A>T GRCh38
NC_000019.9:g.17937594A>T , CM000681.1:g.17937594A>T GRCh37
NC_000019.8:g.17798594A>T NCBI36
NG_007273.1:g.26207T>A , LRG_77:g.26207T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1890T>A ENSP00000513006.1:n.*1890T>A
ENST00000696967.1:n.2510T>A
ENST00000696968.1:n.566T>A
ENST00000696969.1:n.2290T>A
ENST00000458235.7:c.3333T>A MANE Select ENSP00000391676.1:p.Thr1111=
ENST00000458235.5:c.3333T>A ENSP00000391676.1:p.Thr1111=
ENST00000527031.5:n.2279-1475T>A
ENST00000527670.5:c.3333T>A ENSP00000432511.1:p.Thr1111=
NM_000215.3:c.3333T>A , LRG_77t1:c.3333T>A NP_000206.2:p.Thr1111=
XM_005259896.2:c.3462T>A XP_005259953.1:p.Thr1154=
XM_006722745.2:c.3333T>A XP_006722808.1:p.Thr1111=
XM_005259896.3:c.3462T>A XP_005259953.1:p.Thr1154=
NM_000215.4:c.3333T>A MANE Select NP_000206.2:p.Thr1111=