Canonical Allele Identifier: CA404763031
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669831
MyVariant Identifiers: chr19:g.17937617C>A (hg19) chr19:g.17826808C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826808C>A , CM000681.2:g.17826808C>A GRCh38
NC_000019.9:g.17937617C>A , CM000681.1:g.17937617C>A GRCh37
NC_000019.8:g.17798617C>A NCBI36
NG_007273.1:g.26184G>T , LRG_77:g.26184G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1867G>T ENSP00000513006.1:n.*1867G>T
ENST00000696967.1:n.2487G>T
ENST00000696968.1:n.543G>T
ENST00000696969.1:n.2267G>T
ENST00000458235.7:c.3310G>T MANE Select ENSP00000391676.1:p.Gly1104Trp
ENST00000458235.5:c.3310G>T ENSP00000391676.1:p.Gly1104Trp
ENST00000527031.5:n.2279-1498G>T
ENST00000527670.5:c.3310G>T ENSP00000432511.1:p.Gly1104Trp
NM_000215.3:c.3310G>T , LRG_77t1:c.3310G>T NP_000206.2:p.Gly1104Trp
XM_005259896.2:c.3439G>T XP_005259953.1:p.Gly1147Trp
XM_006722745.2:c.3310G>T XP_006722808.1:p.Gly1104Trp
XM_005259896.3:c.3439G>T XP_005259953.1:p.Gly1147Trp
NM_000215.4:c.3310G>T MANE Select NP_000206.2:p.Gly1104Trp
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