Canonical Allele Identifier: CA404767520
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2804090
ClinVar RCV Id: RCV003622502
dbSNP Id: rs2094220711

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834702T>C , CM000681.2:g.17834702T>C GRCh38
NC_000019.9:g.17945511T>C , CM000681.1:g.17945511T>C GRCh37
NC_000019.8:g.17806511T>C NCBI36
NG_007273.1:g.18290A>G , LRG_77:g.18290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*776A>G ENSP00000513006.1:n.*776A>G
ENST00000696967.1:n.1396A>G
ENST00000696970.1:n.874A>G
ENST00000458235.7:c.2219A>G MANE Select ENSP00000391676.1:p.Asp740Gly
ENST00000458235.5:c.2219A>G ENSP00000391676.1:p.Asp740Gly
ENST00000527031.5:n.2278+2025A>G
ENST00000527670.5:c.2219A>G ENSP00000432511.1:p.Asp740Gly
ENST00000534444.1:c.2219A>G ENSP00000436421.1:p.Asp740Gly
NM_000215.3:c.2219A>G , LRG_77t1:c.2219A>G NP_000206.2:p.Asp740Gly
XM_005259896.2:c.2348A>G XP_005259953.1:p.Asp783Gly
XM_006722745.2:c.2219A>G XP_006722808.1:p.Asp740Gly
XM_011527990.1:c.2348A>G XP_011526292.1:p.Asp783Gly
XR_430137.2:n.2358A>G
XM_005259896.3:c.2348A>G XP_005259953.1:p.Asp783Gly
NM_000215.4:c.2219A>G MANE Select NP_000206.2:p.Asp740Gly