Canonical Allele Identifier: CA404763079
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2649556
ClinVar RCV Id: RCV003406898
MyVariant Identifiers: chr19:g.17937638T>G (hg19) chr19:g.17826829T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826829T>G , CM000681.2:g.17826829T>G GRCh38
NC_000019.9:g.17937638T>G , CM000681.1:g.17937638T>G GRCh37
NC_000019.8:g.17798638T>G NCBI36
NG_007273.1:g.26163A>C , LRG_77:g.26163A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1846A>C ENSP00000513006.1:n.*1846A>C
ENST00000696967.1:n.2466A>C
ENST00000696968.1:n.522A>C
ENST00000696969.1:n.2246A>C
ENST00000458235.7:c.3289A>C MANE Select ENSP00000391676.1:p.Met1097Leu
ENST00000458235.5:c.3289A>C ENSP00000391676.1:p.Met1097Leu
ENST00000527031.5:n.2279-1519A>C
ENST00000527670.5:c.3289A>C ENSP00000432511.1:p.Met1097Leu
NM_000215.3:c.3289A>C , LRG_77t1:c.3289A>C NP_000206.2:p.Met1097Leu
XM_005259896.2:c.3418A>C XP_005259953.1:p.Met1140Leu
XM_006722745.2:c.3289A>C XP_006722808.1:p.Met1097Leu
XM_005259896.3:c.3418A>C XP_005259953.1:p.Met1140Leu
NM_000215.4:c.3289A>C MANE Select NP_000206.2:p.Met1097Leu
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