Canonical Allele Identifier: CA2326049477
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826693G>A , CM000681.2:g.17826693G>A GRCh38
NC_000019.9:g.17937502G>A , CM000681.1:g.17937502G>A GRCh37
NC_000019.8:g.17798502G>A NCBI36
NG_007273.1:g.26299C>T , LRG_77:g.26299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1982C>T ENSP00000513006.1:n.*1982C>T
ENST00000696967.1:n.2602C>T
ENST00000696968.1:n.658C>T
ENST00000696969.1:n.2382C>T
ENST00000458235.7:c.*50C>T MANE Select ENSP00000391676.1:n.*50C>T
ENST00000458235.5:c.*50C>T ENSP00000391676.1:n.*50C>T
ENST00000527031.5:n.2279-1383C>T
ENST00000527670.5:c.*50C>T ENSP00000432511.1:n.*50C>T
NM_000215.3:c.*50C>T , LRG_77t1:c.*50C>T NP_000206.2:n.*50C>T
XM_005259896.2:c.*50C>T XP_005259953.1:n.*50C>T
XM_006722745.2:c.*50C>T XP_006722808.1:n.*50C>T
XM_005259896.3:c.*50C>T XP_005259953.1:n.*50C>T
NM_000215.4:c.*50C>T MANE Select NP_000206.2:n.*50C>T
Search 100 bp 5'
Search 100 bp 3'