Canonical Allele Identifier: CA306119311
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs3212800
gnomAD v3: 19-17826605-C-A
gnomAD v4: 19-17826605-C-A
MyVariant Identifiers: chr19:g.17937414C>A (hg19) chr19:g.17826605C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826605C>A , CM000681.2:g.17826605C>A GRCh38
NC_000019.9:g.17937414C>A , CM000681.1:g.17937414C>A GRCh37
NC_000019.8:g.17798414C>A NCBI36
NG_007273.1:g.26387G>T , LRG_77:g.26387G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2070G>T ENSP00000513006.1:n.*2070G>T
ENST00000696967.1:n.2690G>T
ENST00000696968.1:n.746G>T
ENST00000696969.1:n.2470G>T
ENST00000458235.7:c.*138G>T MANE Select ENSP00000391676.1:n.*138G>T
ENST00000458235.5:c.*138G>T ENSP00000391676.1:n.*138G>T
ENST00000527031.5:n.2279-1295G>T
ENST00000527670.5:c.*138G>T ENSP00000432511.1:n.*138G>T
NM_000215.3:c.*138G>T , LRG_77t1:c.*138G>T NP_000206.2:n.*138G>T
XM_005259896.2:c.*138G>T XP_005259953.1:n.*138G>T
XM_006722745.2:c.*138G>T XP_006722808.1:n.*138G>T
XM_005259896.3:c.*138G>T XP_005259953.1:n.*138G>T
NM_000215.4:c.*138G>T MANE Select NP_000206.2:n.*138G>T
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