Canonical Allele Identifier: CA2326049455
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204417
gnomAD v4: 19-17826629-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826629T>G , CM000681.2:g.17826629T>G GRCh38
NC_000019.9:g.17937438T>G , CM000681.1:g.17937438T>G GRCh37
NC_000019.8:g.17798438T>G NCBI36
NG_007273.1:g.26363A>C , LRG_77:g.26363A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2046A>C ENSP00000513006.1:n.*2046A>C
ENST00000696967.1:n.2666A>C
ENST00000696968.1:n.722A>C
ENST00000696969.1:n.2446A>C
ENST00000458235.7:c.*114A>C MANE Select ENSP00000391676.1:n.*114A>C
ENST00000458235.5:c.*114A>C ENSP00000391676.1:n.*114A>C
ENST00000527031.5:n.2279-1319A>C
ENST00000527670.5:c.*114A>C ENSP00000432511.1:n.*114A>C
NM_000215.3:c.*114A>C , LRG_77t1:c.*114A>C NP_000206.2:n.*114A>C
XM_005259896.2:c.*114A>C XP_005259953.1:n.*114A>C
XM_006722745.2:c.*114A>C XP_006722808.1:n.*114A>C
XM_005259896.3:c.*114A>C XP_005259953.1:n.*114A>C
NM_000215.4:c.*114A>C MANE Select NP_000206.2:n.*114A>C
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