Canonical Allele Identifier: CA306119367
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs201268649
gnomAD v3: 19-17826640-G-A
gnomAD v4: 19-17826640-G-A
MyVariant Identifiers: chr19:g.17937449G>A (hg19) chr19:g.17826640G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826640G>A , CM000681.2:g.17826640G>A GRCh38
NC_000019.9:g.17937449G>A , CM000681.1:g.17937449G>A GRCh37
NC_000019.8:g.17798449G>A NCBI36
NG_007273.1:g.26352C>T , LRG_77:g.26352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2035C>T ENSP00000513006.1:n.*2035C>T
ENST00000696967.1:n.2655C>T
ENST00000696968.1:n.711C>T
ENST00000696969.1:n.2435C>T
ENST00000458235.7:c.*103C>T MANE Select ENSP00000391676.1:n.*103C>T
ENST00000458235.5:c.*103C>T ENSP00000391676.1:n.*103C>T
ENST00000527031.5:n.2279-1330C>T
ENST00000527670.5:c.*103C>T ENSP00000432511.1:n.*103C>T
NM_000215.3:c.*103C>T , LRG_77t1:c.*103C>T NP_000206.2:n.*103C>T
XM_005259896.2:c.*103C>T XP_005259953.1:n.*103C>T
XM_006722745.2:c.*103C>T XP_006722808.1:n.*103C>T
XM_005259896.3:c.*103C>T XP_005259953.1:n.*103C>T
NM_000215.4:c.*103C>T MANE Select NP_000206.2:n.*103C>T
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