Canonical Allele Identifier: CA404763192
Gene: JAK3 HGNC NCBI

Linked Data

COSMIC: COSM5389068 COSM5389069
MyVariant Identifiers: chr19:g.17937693C>G (hg19) chr19:g.17826884C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826884C>G , CM000681.2:g.17826884C>G GRCh38
NC_000019.9:g.17937693C>G , CM000681.1:g.17937693C>G GRCh37
NC_000019.8:g.17798693C>G NCBI36
NG_007273.1:g.26108G>C , LRG_77:g.26108G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1791G>C ENSP00000513006.1:n.*1791G>C
ENST00000696967.1:n.2411G>C
ENST00000696968.1:n.467G>C
ENST00000696969.1:n.2191G>C
ENST00000458235.7:c.3234G>C MANE Select ENSP00000391676.1:p.Trp1078Cys
ENST00000458235.5:c.3234G>C ENSP00000391676.1:p.Trp1078Cys
ENST00000527031.5:n.2279-1574G>C
ENST00000527670.5:c.3234G>C ENSP00000432511.1:p.Trp1078Cys
NM_000215.3:c.3234G>C , LRG_77t1:c.3234G>C NP_000206.2:p.Trp1078Cys
XM_005259896.2:c.3363G>C XP_005259953.1:p.Trp1121Cys
XM_006722745.2:c.3234G>C XP_006722808.1:p.Trp1078Cys
XM_005259896.3:c.3363G>C XP_005259953.1:p.Trp1121Cys
NM_000215.4:c.3234G>C MANE Select NP_000206.2:p.Trp1078Cys
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