Canonical Allele Identifier: CA2326049407
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204265
gnomAD v4: 19-17826570-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826570A>T , CM000681.2:g.17826570A>T GRCh38
NC_000019.9:g.17937379A>T , CM000681.1:g.17937379A>T GRCh37
NC_000019.8:g.17798379A>T NCBI36
NG_007273.1:g.26422T>A , LRG_77:g.26422T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2105T>A ENSP00000513006.1:n.*2105T>A
ENST00000696967.1:n.2725T>A
ENST00000696968.1:n.781T>A
ENST00000696969.1:n.2505T>A
ENST00000458235.7:c.*173T>A MANE Select ENSP00000391676.1:n.*173T>A
ENST00000458235.5:c.*173T>A ENSP00000391676.1:n.*173T>A
ENST00000527031.5:n.2279-1260T>A
ENST00000527670.5:c.*173T>A ENSP00000432511.1:n.*173T>A
NM_000215.3:c.*173T>A , LRG_77t1:c.*173T>A NP_000206.2:n.*173T>A
XM_005259896.2:c.*173T>A XP_005259953.1:n.*173T>A
XM_006722745.2:c.*173T>A XP_006722808.1:n.*173T>A
XM_005259896.3:c.*173T>A XP_005259953.1:n.*173T>A
NM_000215.4:c.*173T>A MANE Select NP_000206.2:n.*173T>A
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