Canonical Allele Identifier: CA2583421918
Gene: JAK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17829995C>T , CM000681.2:g.17829995C>T GRCh38
NC_000019.9:g.17940804C>T , CM000681.1:g.17940804C>T GRCh37
NC_000019.8:g.17801804C>T NCBI36
NG_007273.1:g.22997G>A , LRG_77:g.22997G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1764+113G>A ENSP00000513006.1:n.*1764+113G>A
ENST00000696967.1:n.2384+113G>A
ENST00000696968.1:n.440+113G>A
ENST00000696969.1:n.2164+113G>A
ENST00000458235.7:c.3207+113G>A MANE Select ENSP00000391676.1:n.3207+113G>A
ENST00000458235.5:c.3207+113G>A ENSP00000391676.1:n.3207+113G>A
ENST00000527031.5:n.2279-4685G>A
ENST00000527670.5:c.3207+113G>A ENSP00000432511.1:n.3207+113G>A
ENST00000534444.1:c.*35G>A ENSP00000436421.1:n.*35G>A
NM_000215.3:c.3207+113G>A , LRG_77t1:c.3207+113G>A NP_000206.2:n.3207+113G>A
XM_005259896.2:c.3336+113G>A XP_005259953.1:n.3336+113G>A
XM_006722745.2:c.3207+113G>A XP_006722808.1:n.3207+113G>A
XM_005259896.3:c.3336+113G>A XP_005259953.1:n.3336+113G>A
NM_000215.4:c.3207+113G>A MANE Select NP_000206.2:n.3207+113G>A