Canonical Allele Identifier: CA16608096
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 390413
ClinVar RCV Id: RCV000425721
dbSNP Id: rs1057523762
MyVariant Identifiers: chr19:g.17952573T>C (hg19) chr19:g.17841764T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17841764T>C , CM000681.2:g.17841764T>C GRCh38
NC_000019.9:g.17952573T>C , CM000681.1:g.17952573T>C GRCh37
NC_000019.8:g.17813573T>C NCBI36
NG_007273.1:g.11228A>G , LRG_77:g.11228A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.862-2A>G ENSP00000513006.1:n.862-2A>G
ENST00000696967.1:n.39-2A>G
ENST00000458235.7:c.862-2A>G MANE Select ENSP00000391676.1:n.862-2A>G
ENST00000458235.5:c.862-2A>G ENSP00000391676.1:n.862-2A>G
ENST00000526008.5:n.962-2A>G
ENST00000527031.5:n.952-2A>G
ENST00000527670.5:c.862-2A>G ENSP00000432511.1:n.862-2A>G
ENST00000528705.1:n.211-2A>G
ENST00000534444.1:c.862-2A>G ENSP00000436421.1:n.862-2A>G
NM_000215.3:c.862-2A>G , LRG_77t1:c.862-2A>G NP_000206.2:n.862-2A>G
XM_005259896.2:c.991-2A>G XP_005259953.1:n.991-2A>G
XM_006722745.2:c.862-2A>G XP_006722808.1:n.862-2A>G
XM_011527990.1:c.991-2A>G XP_011526292.1:n.991-2A>G
XM_011527991.1:c.991-2A>G XP_011526293.1:n.991-2A>G
XR_430137.2:n.1001-2A>G
XM_005259896.3:c.991-2A>G XP_005259953.1:n.991-2A>G
XM_011527991.2:c.991-2A>G XP_011526293.1:n.991-2A>G
NM_000215.4:c.862-2A>G MANE Select NP_000206.2:n.862-2A>G
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