Canonical Allele Identifier: CA404762966
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2096020
ClinVar RCV Id: RCV003013956
dbSNP Id: rs1051602658

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826778G>A , CM000681.2:g.17826778G>A GRCh38
NC_000019.9:g.17937587G>A , CM000681.1:g.17937587G>A GRCh37
NC_000019.8:g.17798587G>A NCBI36
NG_007273.1:g.26214C>T , LRG_77:g.26214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1897C>T ENSP00000513006.1:n.*1897C>T
ENST00000696967.1:n.2517C>T
ENST00000696968.1:n.573C>T
ENST00000696969.1:n.2297C>T
ENST00000458235.7:c.3340C>T MANE Select ENSP00000391676.1:p.Pro1114Ser
ENST00000458235.5:c.3340C>T ENSP00000391676.1:p.Pro1114Ser
ENST00000527031.5:n.2279-1468C>T
ENST00000527670.5:c.3340C>T ENSP00000432511.1:p.Pro1114Ser
NM_000215.3:c.3340C>T , LRG_77t1:c.3340C>T NP_000206.2:p.Pro1114Ser
XM_005259896.2:c.3469C>T XP_005259953.1:p.Pro1157Ser
XM_006722745.2:c.3340C>T XP_006722808.1:p.Pro1114Ser
XM_005259896.3:c.3469C>T XP_005259953.1:p.Pro1157Ser
NM_000215.4:c.3340C>T MANE Select NP_000206.2:p.Pro1114Ser