Canonical Allele Identifier: CA994140553
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204280
gnomAD v3: 19-17826580-C-T
gnomAD v4: 19-17826580-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826580C>T , CM000681.2:g.17826580C>T GRCh38
NC_000019.9:g.17937389C>T , CM000681.1:g.17937389C>T GRCh37
NC_000019.8:g.17798389C>T NCBI36
NG_007273.1:g.26412G>A , LRG_77:g.26412G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2095G>A ENSP00000513006.1:n.*2095G>A
ENST00000696967.1:n.2715G>A
ENST00000696968.1:n.771G>A
ENST00000696969.1:n.2495G>A
ENST00000458235.7:c.*163G>A MANE Select ENSP00000391676.1:n.*163G>A
ENST00000458235.5:c.*163G>A ENSP00000391676.1:n.*163G>A
ENST00000527031.5:n.2279-1270G>A
ENST00000527670.5:c.*163G>A ENSP00000432511.1:n.*163G>A
NM_000215.3:c.*163G>A , LRG_77t1:c.*163G>A NP_000206.2:n.*163G>A
XM_005259896.2:c.*163G>A XP_005259953.1:n.*163G>A
XM_006722745.2:c.*163G>A XP_006722808.1:n.*163G>A
XM_005259896.3:c.*163G>A XP_005259953.1:n.*163G>A
NM_000215.4:c.*163G>A MANE Select NP_000206.2:n.*163G>A
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