Canonical Allele Identifier: CA404762940
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937575G>C (hg19) chr19:g.17826766G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826766G>C , CM000681.2:g.17826766G>C GRCh38
NC_000019.9:g.17937575G>C , CM000681.1:g.17937575G>C GRCh37
NC_000019.8:g.17798575G>C NCBI36
NG_007273.1:g.26226C>G , LRG_77:g.26226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1909C>G ENSP00000513006.1:n.*1909C>G
ENST00000696967.1:n.2529C>G
ENST00000696968.1:n.585C>G
ENST00000696969.1:n.2309C>G
ENST00000458235.7:c.3352C>G MANE Select ENSP00000391676.1:p.His1118Asp
ENST00000458235.5:c.3352C>G ENSP00000391676.1:p.His1118Asp
ENST00000527031.5:n.2279-1456C>G
ENST00000527670.5:c.3352C>G ENSP00000432511.1:p.His1118Asp
NM_000215.3:c.3352C>G , LRG_77t1:c.3352C>G NP_000206.2:p.His1118Asp
XM_005259896.2:c.3481C>G XP_005259953.1:p.His1161Asp
XM_006722745.2:c.3352C>G XP_006722808.1:p.His1118Asp
XM_005259896.3:c.3481C>G XP_005259953.1:p.His1161Asp
NM_000215.4:c.3352C>G MANE Select NP_000206.2:p.His1118Asp
Search 100 bp 5'
Search 100 bp 3'