Canonical Allele Identifier: CA994140561
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1015874656
gnomAD v3: 19-17826602-C-G
gnomAD v4: 19-17826602-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826602C>G , CM000681.2:g.17826602C>G GRCh38
NC_000019.9:g.17937411C>G , CM000681.1:g.17937411C>G GRCh37
NC_000019.8:g.17798411C>G NCBI36
NG_007273.1:g.26390G>C , LRG_77:g.26390G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2073G>C ENSP00000513006.1:n.*2073G>C
ENST00000696967.1:n.2693G>C
ENST00000696968.1:n.749G>C
ENST00000696969.1:n.2473G>C
ENST00000458235.7:c.*141G>C MANE Select ENSP00000391676.1:n.*141G>C
ENST00000458235.5:c.*141G>C ENSP00000391676.1:n.*141G>C
ENST00000527031.5:n.2279-1292G>C
ENST00000527670.5:c.*141G>C ENSP00000432511.1:n.*141G>C
NM_000215.3:c.*141G>C , LRG_77t1:c.*141G>C NP_000206.2:n.*141G>C
XM_005259896.2:c.*141G>C XP_005259953.1:n.*141G>C
XM_006722745.2:c.*141G>C XP_006722808.1:n.*141G>C
XM_005259896.3:c.*141G>C XP_005259953.1:n.*141G>C
NM_000215.4:c.*141G>C MANE Select NP_000206.2:n.*141G>C
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