Canonical Allele Identifier: CA404762928
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 640630
ClinVar RCV Id: RCV000793692
dbSNP Id: rs1275983760

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826762T>C , CM000681.2:g.17826762T>C GRCh38
NC_000019.9:g.17937571T>C , CM000681.1:g.17937571T>C GRCh37
NC_000019.8:g.17798571T>C NCBI36
NG_007273.1:g.26230A>G , LRG_77:g.26230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1913A>G ENSP00000513006.1:n.*1913A>G
ENST00000696967.1:n.2533A>G
ENST00000696968.1:n.589A>G
ENST00000696969.1:n.2313A>G
ENST00000458235.7:c.3356A>G MANE Select ENSP00000391676.1:p.His1119Arg
ENST00000458235.5:c.3356A>G ENSP00000391676.1:p.His1119Arg
ENST00000527031.5:n.2279-1452A>G
ENST00000527670.5:c.3356A>G ENSP00000432511.1:p.His1119Arg
NM_000215.3:c.3356A>G , LRG_77t1:c.3356A>G NP_000206.2:p.His1119Arg
XM_005259896.2:c.3485A>G XP_005259953.1:p.His1162Arg
XM_006722745.2:c.3356A>G XP_006722808.1:p.His1119Arg
XM_005259896.3:c.3485A>G XP_005259953.1:p.His1162Arg
NM_000215.4:c.3356A>G MANE Select NP_000206.2:p.His1119Arg