Canonical Allele Identifier: CA404763251
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1418355502
MyVariant Identifiers: chr19:g.17937719C>T (hg19) chr19:g.17826910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826910C>T , CM000681.2:g.17826910C>T GRCh38
NC_000019.9:g.17937719C>T , CM000681.1:g.17937719C>T GRCh37
NC_000019.8:g.17798719C>T NCBI36
NG_007273.1:g.26082G>A , LRG_77:g.26082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765G>A ENSP00000513006.1:n.*1765G>A
ENST00000696967.1:n.2385G>A
ENST00000696968.1:n.441G>A
ENST00000696969.1:n.2165G>A
ENST00000458235.7:c.3208G>A MANE Select ENSP00000391676.1:p.Val1070Ile
ENST00000458235.5:c.3208G>A ENSP00000391676.1:p.Val1070Ile
ENST00000527031.5:n.2279-1600G>A
ENST00000527670.5:c.3208G>A ENSP00000432511.1:p.Val1070Ile
NM_000215.3:c.3208G>A , LRG_77t1:c.3208G>A NP_000206.2:p.Val1070Ile
XM_005259896.2:c.3337G>A XP_005259953.1:p.Val1113Ile
XM_006722745.2:c.3208G>A XP_006722808.1:p.Val1070Ile
XM_005259896.3:c.3337G>A XP_005259953.1:p.Val1113Ile
NM_000215.4:c.3208G>A MANE Select NP_000206.2:p.Val1070Ile
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