Canonical Allele Identifier: CA404763225
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937706A>G (hg19) chr19:g.17826897A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826897A>G , CM000681.2:g.17826897A>G GRCh38
NC_000019.9:g.17937706A>G , CM000681.1:g.17937706A>G GRCh37
NC_000019.8:g.17798706A>G NCBI36
NG_007273.1:g.26095T>C , LRG_77:g.26095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1778T>C ENSP00000513006.1:n.*1778T>C
ENST00000696967.1:n.2398T>C
ENST00000696968.1:n.454T>C
ENST00000696969.1:n.2178T>C
ENST00000458235.7:c.3221T>C MANE Select ENSP00000391676.1:p.Met1074Thr
ENST00000458235.5:c.3221T>C ENSP00000391676.1:p.Met1074Thr
ENST00000527031.5:n.2279-1587T>C
ENST00000527670.5:c.3221T>C ENSP00000432511.1:p.Met1074Thr
NM_000215.3:c.3221T>C , LRG_77t1:c.3221T>C NP_000206.2:p.Met1074Thr
XM_005259896.2:c.3350T>C XP_005259953.1:p.Met1117Thr
XM_006722745.2:c.3221T>C XP_006722808.1:p.Met1074Thr
XM_005259896.3:c.3350T>C XP_005259953.1:p.Met1117Thr
NM_000215.4:c.3221T>C MANE Select NP_000206.2:p.Met1074Thr
Search 100 bp 5'
Search 100 bp 3'