Canonical Allele Identifier: CA2326054441
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17837053G= , CM000681.2:g.17837053G= GRCh38
NC_000019.9:g.17947862G= , CM000681.1:g.17947862G= GRCh37
NC_000019.8:g.17808862G= NCBI36
NG_007273.1:g.15939C= , LRG_77:g.15939C=

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.*343+76C= ENSP00000513006.1:n.*343+76C=
ENST00000696967.1:n.963+76C=
ENST00000696970.1:n.441+76C=
ENST00000458235.7:c.1786+76C= MANE Select ENSP00000391676.1:n.1786+76C=
ENST00000458235.5:c.1786+76C= ENSP00000391676.1:n.1786+76C=
ENST00000527031.5:n.1952C=
ENST00000527670.5:c.1786+76C= ENSP00000432511.1:n.1786+76C=
ENST00000534444.1:c.1786+76C= ENSP00000436421.1:n.1786+76C=
NM_000215.3:c.1786+76C= , LRG_77t1:c.1786+76C= NP_000206.2:n.1786+76C=
XM_005259896.2:c.1915+76C= XP_005259953.1:n.1915+76C=
XM_006722745.2:c.1786+76C= XP_006722808.1:n.1786+76C=
XM_011527990.1:c.1915+76C= XP_011526292.1:n.1915+76C=
XM_011527991.1:c.1915+76C= XP_011526293.1:n.1915+76C=
XR_430137.2:n.1925+76C=
XM_005259896.3:c.1915+76C= XP_005259953.1:n.1915+76C=
XM_011527991.2:c.1915+76C= XP_011526293.1:n.1915+76C=
NM_000215.4:c.1786+76C= MANE Select NP_000206.2:n.1786+76C=