Canonical Allele Identifier: CA404763074
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669878
MyVariant Identifiers: chr19:g.17937636C>T (hg19) chr19:g.17826827C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826827C>T , CM000681.2:g.17826827C>T GRCh38
NC_000019.9:g.17937636C>T , CM000681.1:g.17937636C>T GRCh37
NC_000019.8:g.17798636C>T NCBI36
NG_007273.1:g.26165G>A , LRG_77:g.26165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1848G>A ENSP00000513006.1:n.*1848G>A
ENST00000696967.1:n.2468G>A
ENST00000696968.1:n.524G>A
ENST00000696969.1:n.2248G>A
ENST00000458235.7:c.3291G>A MANE Select ENSP00000391676.1:p.Met1097Ile
ENST00000458235.5:c.3291G>A ENSP00000391676.1:p.Met1097Ile
ENST00000527031.5:n.2279-1517G>A
ENST00000527670.5:c.3291G>A ENSP00000432511.1:p.Met1097Ile
NM_000215.3:c.3291G>A , LRG_77t1:c.3291G>A NP_000206.2:p.Met1097Ile
XM_005259896.2:c.3420G>A XP_005259953.1:p.Met1140Ile
XM_006722745.2:c.3291G>A XP_006722808.1:p.Met1097Ile
XM_005259896.3:c.3420G>A XP_005259953.1:p.Met1140Ile
NM_000215.4:c.3291G>A MANE Select NP_000206.2:p.Met1097Ile
Search 100 bp 5'
Search 100 bp 3'