Canonical Allele Identifier: CA9301394
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1283176
ClinVar RCV Id: RCV001689435
dbSNP Id: rs3212780

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17830033G>A , CM000681.2:g.17830033G>A GRCh38
NC_000019.9:g.17940842G>A , CM000681.1:g.17940842G>A GRCh37
NC_000019.8:g.17801842G>A NCBI36
NG_007273.1:g.22959C>T , LRG_77:g.22959C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.*1764+75C>T ENSP00000513006.1:n.*1764+75C>T
ENST00000696967.1:n.2384+75C>T
ENST00000696968.1:n.440+75C>T
ENST00000696969.1:n.2164+75C>T
ENST00000458235.7:c.3207+75C>T MANE Select ENSP00000391676.1:n.3207+75C>T
ENST00000458235.5:c.3207+75C>T ENSP00000391676.1:n.3207+75C>T
ENST00000527031.5:n.2279-4723C>T
ENST00000527670.5:c.3207+75C>T ENSP00000432511.1:n.3207+75C>T
ENST00000534444.1:c.3282C>T ENSP00000436421.1:p.Ala1094=
NM_000215.3:c.3207+75C>T , LRG_77t1:c.3207+75C>T NP_000206.2:n.3207+75C>T
XM_005259896.2:c.3336+75C>T XP_005259953.1:n.3336+75C>T
XM_006722745.2:c.3207+75C>T XP_006722808.1:n.3207+75C>T
XM_005259896.3:c.3336+75C>T XP_005259953.1:n.3336+75C>T
NM_000215.4:c.3207+75C>T MANE Select NP_000206.2:n.3207+75C>T