Canonical Allele Identifier: CA404763185
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147670005
MyVariant Identifiers: chr19:g.17937691G>A (hg19) chr19:g.17826882G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826882G>A , CM000681.2:g.17826882G>A GRCh38
NC_000019.9:g.17937691G>A , CM000681.1:g.17937691G>A GRCh37
NC_000019.8:g.17798691G>A NCBI36
NG_007273.1:g.26110C>T , LRG_77:g.26110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1793C>T ENSP00000513006.1:n.*1793C>T
ENST00000696967.1:n.2413C>T
ENST00000696968.1:n.469C>T
ENST00000696969.1:n.2193C>T
ENST00000458235.7:c.3236C>T MANE Select ENSP00000391676.1:p.Ala1079Val
ENST00000458235.5:c.3236C>T ENSP00000391676.1:p.Ala1079Val
ENST00000527031.5:n.2279-1572C>T
ENST00000527670.5:c.3236C>T ENSP00000432511.1:p.Ala1079Val
NM_000215.3:c.3236C>T , LRG_77t1:c.3236C>T NP_000206.2:p.Ala1079Val
XM_005259896.2:c.3365C>T XP_005259953.1:p.Ala1122Val
XM_006722745.2:c.3236C>T XP_006722808.1:p.Ala1079Val
XM_005259896.3:c.3365C>T XP_005259953.1:p.Ala1122Val
NM_000215.4:c.3236C>T MANE Select NP_000206.2:p.Ala1079Val
Search 100 bp 5'
Search 100 bp 3'