Canonical Allele Identifier: CA2326049570
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826910C= , CM000681.2:g.17826910C= GRCh38
NC_000019.9:g.17937719C= , CM000681.1:g.17937719C= GRCh37
NC_000019.8:g.17798719C= NCBI36
NG_007273.1:g.26082G= , LRG_77:g.26082G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765G= ENSP00000513006.1:n.*1765G=
ENST00000696967.1:n.2385G=
ENST00000696968.1:n.441G=
ENST00000696969.1:n.2165G=
ENST00000458235.7:c.3208G= MANE Select ENSP00000391676.1:p.Val1070=
ENST00000458235.5:c.3208G= ENSP00000391676.1:p.Val1070=
ENST00000527031.5:n.2279-1600G=
ENST00000527670.5:c.3208G= ENSP00000432511.1:p.Val1070=
NM_000215.3:c.3208G= , LRG_77t1:c.3208G= NP_000206.2:p.Val1070=
XM_005259896.2:c.3337G= XP_005259953.1:p.Val1113=
XM_006722745.2:c.3208G= XP_006722808.1:p.Val1070=
XM_005259896.3:c.3337G= XP_005259953.1:p.Val1113=
NM_000215.4:c.3208G= MANE Select NP_000206.2:p.Val1070=