Canonical Allele Identifier: CA404763232
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs200580168
gnomAD v4: 19-17826901-G-C
MyVariant Identifiers: chr19:g.17937710G>C (hg19) chr19:g.17826901G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826901G>C , CM000681.2:g.17826901G>C GRCh38
NC_000019.9:g.17937710G>C , CM000681.1:g.17937710G>C GRCh37
NC_000019.8:g.17798710G>C NCBI36
NG_007273.1:g.26091C>G , LRG_77:g.26091C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1774C>G ENSP00000513006.1:n.*1774C>G
ENST00000696967.1:n.2394C>G
ENST00000696968.1:n.450C>G
ENST00000696969.1:n.2174C>G
ENST00000458235.7:c.3217C>G MANE Select ENSP00000391676.1:p.Leu1073Val
ENST00000458235.5:c.3217C>G ENSP00000391676.1:p.Leu1073Val
ENST00000527031.5:n.2279-1591C>G
ENST00000527670.5:c.3217C>G ENSP00000432511.1:p.Leu1073Val
NM_000215.3:c.3217C>G , LRG_77t1:c.3217C>G NP_000206.2:p.Leu1073Val
XM_005259896.2:c.3346C>G XP_005259953.1:p.Leu1116Val
XM_006722745.2:c.3217C>G XP_006722808.1:p.Leu1073Val
XM_005259896.3:c.3346C>G XP_005259953.1:p.Leu1116Val
NM_000215.4:c.3217C>G MANE Select NP_000206.2:p.Leu1073Val
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