Canonical Allele Identifier: CA2326054391
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17836975G= , CM000681.2:g.17836975G= GRCh38
NC_000019.9:g.17947784G= , CM000681.1:g.17947784G= GRCh37
NC_000019.8:g.17808784G= NCBI36
NG_007273.1:g.16017C= , LRG_77:g.16017C=

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.*343+154C= ENSP00000513006.1:n.*343+154C=
ENST00000696967.1:n.963+154C=
ENST00000696970.1:n.441+154C=
ENST00000458235.7:c.1786+154C= MANE Select ENSP00000391676.1:n.1786+154C=
ENST00000458235.5:c.1786+154C= ENSP00000391676.1:n.1786+154C=
ENST00000527031.5:n.2030C=
ENST00000527670.5:c.1786+154C= ENSP00000432511.1:n.1786+154C=
ENST00000534444.1:c.1786+154C= ENSP00000436421.1:n.1786+154C=
NM_000215.3:c.1786+154C= , LRG_77t1:c.1786+154C= NP_000206.2:n.1786+154C=
XM_005259896.2:c.1915+154C= XP_005259953.1:n.1915+154C=
XM_006722745.2:c.1786+154C= XP_006722808.1:n.1786+154C=
XM_011527990.1:c.1915+154C= XP_011526292.1:n.1915+154C=
XM_011527991.1:c.1916-21C= XP_011526293.1:n.1916-21C=
XR_430137.2:n.1925+154C=
XM_005259896.3:c.1915+154C= XP_005259953.1:n.1915+154C=
XM_011527991.2:c.1916-21C= XP_011526293.1:n.1916-21C=
NM_000215.4:c.1786+154C= MANE Select NP_000206.2:n.1786+154C=