Canonical Allele Identifier: CA404762945
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826768-T-C
MyVariant Identifiers: chr19:g.17937577T>C (hg19) chr19:g.17826768T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826768T>C , CM000681.2:g.17826768T>C GRCh38
NC_000019.9:g.17937577T>C , CM000681.1:g.17937577T>C GRCh37
NC_000019.8:g.17798577T>C NCBI36
NG_007273.1:g.26224A>G , LRG_77:g.26224A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1907A>G ENSP00000513006.1:n.*1907A>G
ENST00000696967.1:n.2527A>G
ENST00000696968.1:n.583A>G
ENST00000696969.1:n.2307A>G
ENST00000458235.7:c.3350A>G MANE Select ENSP00000391676.1:p.Lys1117Arg
ENST00000458235.5:c.3350A>G ENSP00000391676.1:p.Lys1117Arg
ENST00000527031.5:n.2279-1458A>G
ENST00000527670.5:c.3350A>G ENSP00000432511.1:p.Lys1117Arg
NM_000215.3:c.3350A>G , LRG_77t1:c.3350A>G NP_000206.2:p.Lys1117Arg
XM_005259896.2:c.3479A>G XP_005259953.1:p.Lys1160Arg
XM_006722745.2:c.3350A>G XP_006722808.1:p.Lys1117Arg
XM_005259896.3:c.3479A>G XP_005259953.1:p.Lys1160Arg
NM_000215.4:c.3350A>G MANE Select NP_000206.2:p.Lys1117Arg
Search 100 bp 5'
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