Canonical Allele Identifier: CA404767321
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459771
ClinVar RCV Id: RCV001963164
dbSNP Id: rs1198251679
gnomAD v2: 19-17945419-G-A
gnomAD v4: 19-17834610-G-A
MyVariant Identifiers: chr19:g.17945419G>A (hg19) chr19:g.17834610G>A (hg38)
ERepo: CA404767321/MONDO:0010938/121
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17834610G>A , CM000681.2:g.17834610G>A GRCh38
NC_000019.9:g.17945419G>A , CM000681.1:g.17945419G>A GRCh37
NC_000019.8:g.17806419G>A NCBI36
NG_007273.1:g.18382C>T , LRG_77:g.18382C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*868C>T ENSP00000513006.1:n.*868C>T
ENST00000696967.1:n.1488C>T
ENST00000696970.1:n.966C>T
ENST00000458235.7:c.2311C>T MANE Select ENSP00000391676.1:p.Arg771Ter
ENST00000458235.5:c.2311C>T ENSP00000391676.1:p.Arg771Ter
ENST00000527031.5:n.2278+2117C>T
ENST00000527670.5:c.2311C>T ENSP00000432511.1:p.Arg771Ter
ENST00000534444.1:c.2311C>T ENSP00000436421.1:p.Arg771Ter
NM_000215.3:c.2311C>T , LRG_77t1:c.2311C>T NP_000206.2:p.Arg771Ter
XM_005259896.2:c.2440C>T XP_005259953.1:p.Arg814Ter
XM_006722745.2:c.2311C>T XP_006722808.1:p.Arg771Ter
XM_011527990.1:c.2440C>T XP_011526292.1:p.Arg814Ter
XR_430137.2:n.2450C>T
XM_005259896.3:c.2440C>T XP_005259953.1:p.Arg814Ter
NM_000215.4:c.2311C>T MANE Select NP_000206.2:p.Arg771Ter
Search 100 bp 5'
Search 100 bp 3'