Canonical Allele Identifier: CA2326053614
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17835083T= , CM000681.2:g.17835083T= GRCh38
NC_000019.9:g.17945892T= , CM000681.1:g.17945892T= GRCh37
NC_000019.8:g.17806892T= NCBI36
NG_007273.1:g.17909A= , LRG_77:g.17909A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*604A= ENSP00000513006.1:n.*604A=
ENST00000696967.1:n.1224A=
ENST00000696970.1:n.702A=
ENST00000458235.7:c.2047A= MANE Select ENSP00000391676.1:p.Met683=
ENST00000458235.5:c.2047A= ENSP00000391676.1:p.Met683=
ENST00000527031.5:n.2278+1644A=
ENST00000527670.5:c.2047A= ENSP00000432511.1:p.Met683=
ENST00000534444.1:c.2047A= ENSP00000436421.1:p.Met683=
NM_000215.3:c.2047A= , LRG_77t1:c.2047A= NP_000206.2:p.Met683=
XM_005259896.2:c.2176A= XP_005259953.1:p.Met726=
XM_006722745.2:c.2047A= XP_006722808.1:p.Met683=
XM_011527990.1:c.2176A= XP_011526292.1:p.Met726=
XR_430137.2:n.2186A=
XM_005259896.3:c.2176A= XP_005259953.1:p.Met726=
NM_000215.4:c.2047A= MANE Select NP_000206.2:p.Met683=