Canonical Allele Identifier: CA2326049583
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826928G= , CM000681.2:g.17826928G= GRCh38
NC_000019.9:g.17937737G= , CM000681.1:g.17937737G= GRCh37
NC_000019.8:g.17798737G= NCBI36
NG_007273.1:g.26064C= , LRG_77:g.26064C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-18C= ENSP00000513006.1:n.*1765-18C=
ENST00000696967.1:n.2385-18C=
ENST00000696968.1:n.441-18C=
ENST00000696969.1:n.2165-18C=
ENST00000458235.7:c.3208-18C= MANE Select ENSP00000391676.1:n.3208-18C=
ENST00000458235.5:c.3208-18C= ENSP00000391676.1:n.3208-18C=
ENST00000527031.5:n.2279-1618C=
ENST00000527670.5:c.3208-18C= ENSP00000432511.1:n.3208-18C=
NM_000215.3:c.3208-18C= , LRG_77t1:c.3208-18C= NP_000206.2:n.3208-18C=
XM_005259896.2:c.3337-18C= XP_005259953.1:n.3337-18C=
XM_006722745.2:c.3208-18C= XP_006722808.1:n.3208-18C=
XM_005259896.3:c.3337-18C= XP_005259953.1:n.3337-18C=
NM_000215.4:c.3208-18C= MANE Select NP_000206.2:n.3208-18C=
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