Canonical Allele Identifier: CA2326053405
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834603A= , CM000681.2:g.17834603A= GRCh38
NC_000019.9:g.17945412A= , CM000681.1:g.17945412A= GRCh37
NC_000019.8:g.17806412A= NCBI36
NG_007273.1:g.18389T= , LRG_77:g.18389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*875T= ENSP00000513006.1:n.*875T=
ENST00000696967.1:n.1495T=
ENST00000696970.1:n.973T=
ENST00000458235.7:c.2318T= MANE Select ENSP00000391676.1:p.Val773=
ENST00000458235.5:c.2318T= ENSP00000391676.1:p.Val773=
ENST00000527031.5:n.2278+2124T=
ENST00000527670.5:c.2318T= ENSP00000432511.1:p.Val773=
ENST00000534444.1:c.2318T= ENSP00000436421.1:p.Val773=
NM_000215.3:c.2318T= , LRG_77t1:c.2318T= NP_000206.2:p.Val773=
XM_005259896.2:c.2447T= XP_005259953.1:p.Val816=
XM_006722745.2:c.2318T= XP_006722808.1:p.Val773=
XM_011527990.1:c.2447T= XP_011526292.1:p.Val816=
XR_430137.2:n.2457T=
XM_005259896.3:c.2447T= XP_005259953.1:p.Val816=
NM_000215.4:c.2318T= MANE Select NP_000206.2:p.Val773=