Canonical Allele Identifier: CA2583421432
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826623-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826623G>A , CM000681.2:g.17826623G>A GRCh38
NC_000019.9:g.17937432G>A , CM000681.1:g.17937432G>A GRCh37
NC_000019.8:g.17798432G>A NCBI36
NG_007273.1:g.26369C>T , LRG_77:g.26369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2052C>T ENSP00000513006.1:n.*2052C>T
ENST00000696967.1:n.2672C>T
ENST00000696968.1:n.728C>T
ENST00000696969.1:n.2452C>T
ENST00000458235.7:c.*120C>T MANE Select ENSP00000391676.1:n.*120C>T
ENST00000458235.5:c.*120C>T ENSP00000391676.1:n.*120C>T
ENST00000527031.5:n.2279-1313C>T
ENST00000527670.5:c.*120C>T ENSP00000432511.1:n.*120C>T
NM_000215.3:c.*120C>T , LRG_77t1:c.*120C>T NP_000206.2:n.*120C>T
XM_005259896.2:c.*120C>T XP_005259953.1:n.*120C>T
XM_006722745.2:c.*120C>T XP_006722808.1:n.*120C>T
XM_005259896.3:c.*120C>T XP_005259953.1:n.*120C>T
NM_000215.4:c.*120C>T MANE Select NP_000206.2:n.*120C>T
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