Canonical Allele Identifier: CA2326052133
Community Standard Title: NM_000215.4(JAK3):c.2773C= (p.Arg925=)
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17831706G= , CM000681.2:g.17831706G= GRCh38
NC_000019.9:g.17942515G= , CM000681.1:g.17942515G= GRCh37
NC_000019.8:g.17803515G= NCBI36
NG_007273.1:g.21286C= , LRG_77:g.21286C=

Transcript Alleles

HGVS Amino-acid Change
NM_000215.4:c.2773C= MANE Select NP_000206.2:p.Arg925=
ENST00000458235.7:c.2773C= MANE Select ENSP00000391676.1:p.Arg925=
NM_000215.3:c.2773C= , LRG_77t1:c.2773C= NP_000206.2:p.Arg925=
ENST00000458235.5:c.2773C= ENSP00000391676.1:p.Arg925=
ENST00000526008.6:c.*1330C= ENSP00000513006.1:n.*1330C=
ENST00000527031.5:n.2278+5021C=
ENST00000527670.5:c.2773C= ENSP00000432511.1:p.Arg925=
ENST00000534444.1:c.2773C= ENSP00000436421.1:p.Arg925=
ENST00000696967.1:n.1950C=
ENST00000696969.1:n.1730C=
XM_005259896.2:c.2902C= XP_005259953.1:p.Arg968=
XM_005259896.3:c.2902C= XP_005259953.1:p.Arg968=
XM_006722745.2:c.2773C= XP_006722808.1:p.Arg925=