Canonical Allele Identifier: CA2813814347
Gene: JAK3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826564T>A , CM000681.2:g.17826564T>A GRCh38
NC_000019.9:g.17937373T>A , CM000681.1:g.17937373T>A GRCh37
NC_000019.8:g.17798373T>A NCBI36
NG_007273.1:g.26428A>T , LRG_77:g.26428A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2111A>T ENSP00000513006.1:n.*2111A>T
ENST00000696967.1:n.2731A>T
ENST00000696968.1:n.787A>T
ENST00000696969.1:n.2511A>T
ENST00000458235.7:c.*179A>T MANE Select ENSP00000391676.1:n.*179A>T
ENST00000458235.5:c.*179A>T ENSP00000391676.1:n.*179A>T
ENST00000527031.5:n.2279-1254A>T
ENST00000527670.5:c.*179A>T ENSP00000432511.1:n.*179A>T
NM_000215.3:c.*179A>T , LRG_77t1:c.*179A>T NP_000206.2:n.*179A>T
XM_005259896.2:c.*179A>T XP_005259953.1:n.*179A>T
XM_006722745.2:c.*179A>T XP_006722808.1:n.*179A>T
XM_005259896.3:c.*179A>T XP_005259953.1:n.*179A>T
NM_000215.4:c.*179A>T MANE Select NP_000206.2:n.*179A>T
Search 100 bp 5'
Search 100 bp 3'