Canonical Allele Identifier: CA404763133
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937665A>C (hg19) chr19:g.17826856A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826856A>C , CM000681.2:g.17826856A>C GRCh38
NC_000019.9:g.17937665A>C , CM000681.1:g.17937665A>C GRCh37
NC_000019.8:g.17798665A>C NCBI36
NG_007273.1:g.26136T>G , LRG_77:g.26136T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1819T>G ENSP00000513006.1:n.*1819T>G
ENST00000696967.1:n.2439T>G
ENST00000696968.1:n.495T>G
ENST00000696969.1:n.2219T>G
ENST00000458235.7:c.3262T>G MANE Select ENSP00000391676.1:p.Phe1088Val
ENST00000458235.5:c.3262T>G ENSP00000391676.1:p.Phe1088Val
ENST00000527031.5:n.2279-1546T>G
ENST00000527670.5:c.3262T>G ENSP00000432511.1:p.Phe1088Val
NM_000215.3:c.3262T>G , LRG_77t1:c.3262T>G NP_000206.2:p.Phe1088Val
XM_005259896.2:c.3391T>G XP_005259953.1:p.Phe1131Val
XM_006722745.2:c.3262T>G XP_006722808.1:p.Phe1088Val
XM_005259896.3:c.3391T>G XP_005259953.1:p.Phe1131Val
NM_000215.4:c.3262T>G MANE Select NP_000206.2:p.Phe1088Val
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