Canonical Allele Identifier: CA2583421420
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826615-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826615A>C , CM000681.2:g.17826615A>C GRCh38
NC_000019.9:g.17937424A>C , CM000681.1:g.17937424A>C GRCh37
NC_000019.8:g.17798424A>C NCBI36
NG_007273.1:g.26377T>G , LRG_77:g.26377T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2060T>G ENSP00000513006.1:n.*2060T>G
ENST00000696967.1:n.2680T>G
ENST00000696968.1:n.736T>G
ENST00000696969.1:n.2460T>G
ENST00000458235.7:c.*128T>G MANE Select ENSP00000391676.1:n.*128T>G
ENST00000458235.5:c.*128T>G ENSP00000391676.1:n.*128T>G
ENST00000527031.5:n.2279-1305T>G
ENST00000527670.5:c.*128T>G ENSP00000432511.1:n.*128T>G
NM_000215.3:c.*128T>G , LRG_77t1:c.*128T>G NP_000206.2:n.*128T>G
XM_005259896.2:c.*128T>G XP_005259953.1:n.*128T>G
XM_006722745.2:c.*128T>G XP_006722808.1:n.*128T>G
XM_005259896.3:c.*128T>G XP_005259953.1:n.*128T>G
NM_000215.4:c.*128T>G MANE Select NP_000206.2:n.*128T>G
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