Canonical Allele Identifier: CA404762923
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826760-A-C
MyVariant Identifiers: chr19:g.17937569A>C (hg19) chr19:g.17826760A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826760A>C , CM000681.2:g.17826760A>C GRCh38
NC_000019.9:g.17937569A>C , CM000681.1:g.17937569A>C GRCh37
NC_000019.8:g.17798569A>C NCBI36
NG_007273.1:g.26232T>G , LRG_77:g.26232T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1915T>G ENSP00000513006.1:n.*1915T>G
ENST00000696967.1:n.2535T>G
ENST00000696968.1:n.591T>G
ENST00000696969.1:n.2315T>G
ENST00000458235.7:c.3358T>G MANE Select ENSP00000391676.1:p.Ser1120Ala
ENST00000458235.5:c.3358T>G ENSP00000391676.1:p.Ser1120Ala
ENST00000527031.5:n.2279-1450T>G
ENST00000527670.5:c.3358T>G ENSP00000432511.1:p.Ser1120Ala
NM_000215.3:c.3358T>G , LRG_77t1:c.3358T>G NP_000206.2:p.Ser1120Ala
XM_005259896.2:c.3487T>G XP_005259953.1:p.Ser1163Ala
XM_006722745.2:c.3358T>G XP_006722808.1:p.Ser1120Ala
XM_005259896.3:c.3487T>G XP_005259953.1:p.Ser1163Ala
NM_000215.4:c.3358T>G MANE Select NP_000206.2:p.Ser1120Ala
Search 100 bp 5'
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