Canonical Allele Identifier: CA2583421424
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826617-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826617G>C , CM000681.2:g.17826617G>C GRCh38
NC_000019.9:g.17937426G>C , CM000681.1:g.17937426G>C GRCh37
NC_000019.8:g.17798426G>C NCBI36
NG_007273.1:g.26375C>G , LRG_77:g.26375C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2058C>G ENSP00000513006.1:n.*2058C>G
ENST00000696967.1:n.2678C>G
ENST00000696968.1:n.734C>G
ENST00000696969.1:n.2458C>G
ENST00000458235.7:c.*126C>G MANE Select ENSP00000391676.1:n.*126C>G
ENST00000458235.5:c.*126C>G ENSP00000391676.1:n.*126C>G
ENST00000527031.5:n.2279-1307C>G
ENST00000527670.5:c.*126C>G ENSP00000432511.1:n.*126C>G
NM_000215.3:c.*126C>G , LRG_77t1:c.*126C>G NP_000206.2:n.*126C>G
XM_005259896.2:c.*126C>G XP_005259953.1:n.*126C>G
XM_006722745.2:c.*126C>G XP_006722808.1:n.*126C>G
XM_005259896.3:c.*126C>G XP_005259953.1:n.*126C>G
NM_000215.4:c.*126C>G MANE Select NP_000206.2:n.*126C>G
Search 100 bp 5'
Search 100 bp 3'