Canonical Allele Identifier: CA2326053442
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834696T= , CM000681.2:g.17834696T= GRCh38
NC_000019.9:g.17945505T= , CM000681.1:g.17945505T= GRCh37
NC_000019.8:g.17806505T= NCBI36
NG_007273.1:g.18296A= , LRG_77:g.18296A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*782A= ENSP00000513006.1:n.*782A=
ENST00000696967.1:n.1402A=
ENST00000696970.1:n.880A=
ENST00000458235.7:c.2225A= MANE Select ENSP00000391676.1:p.Gln742=
ENST00000458235.5:c.2225A= ENSP00000391676.1:p.Gln742=
ENST00000527031.5:n.2278+2031A=
ENST00000527670.5:c.2225A= ENSP00000432511.1:p.Gln742=
ENST00000534444.1:c.2225A= ENSP00000436421.1:p.Gln742=
NM_000215.3:c.2225A= , LRG_77t1:c.2225A= NP_000206.2:p.Gln742=
XM_005259896.2:c.2354A= XP_005259953.1:p.Gln785=
XM_006722745.2:c.2225A= XP_006722808.1:p.Gln742=
XM_011527990.1:c.2354A= XP_011526292.1:p.Gln785=
XR_430137.2:n.2364A=
XM_005259896.3:c.2354A= XP_005259953.1:p.Gln785=
NM_000215.4:c.2225A= MANE Select NP_000206.2:p.Gln742=