Canonical Allele Identifier: CA2326049405
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204255
gnomAD v4: 19-17826564-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826564T>C , CM000681.2:g.17826564T>C GRCh38
NC_000019.9:g.17937373T>C , CM000681.1:g.17937373T>C GRCh37
NC_000019.8:g.17798373T>C NCBI36
NG_007273.1:g.26428A>G , LRG_77:g.26428A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2111A>G ENSP00000513006.1:n.*2111A>G
ENST00000696967.1:n.2731A>G
ENST00000696968.1:n.787A>G
ENST00000696969.1:n.2511A>G
ENST00000458235.7:c.*179A>G MANE Select ENSP00000391676.1:n.*179A>G
ENST00000458235.5:c.*179A>G ENSP00000391676.1:n.*179A>G
ENST00000527031.5:n.2279-1254A>G
ENST00000527670.5:c.*179A>G ENSP00000432511.1:n.*179A>G
NM_000215.3:c.*179A>G , LRG_77t1:c.*179A>G NP_000206.2:n.*179A>G
XM_005259896.2:c.*179A>G XP_005259953.1:n.*179A>G
XM_006722745.2:c.*179A>G XP_006722808.1:n.*179A>G
XM_005259896.3:c.*179A>G XP_005259953.1:n.*179A>G
NM_000215.4:c.*179A>G MANE Select NP_000206.2:n.*179A>G
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