Canonical Allele Identifier: CA9301334
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3050786
ClinVar RCV Id: RCV003954785
dbSNP Id: rs200121857
ExAC: 19:17937542 C / T
gnomAD v2: 19-17937542-C-T
gnomAD v3: 19-17826733-C-T
gnomAD v4: 19-17826733-C-T
MyVariant Identifiers: chr19:g.17937542C>T (hg19) chr19:g.17826733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826733C>T , CM000681.2:g.17826733C>T GRCh38
NC_000019.9:g.17937542C>T , CM000681.1:g.17937542C>T GRCh37
NC_000019.8:g.17798542C>T NCBI36
NG_007273.1:g.26259G>A , LRG_77:g.26259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1942G>A ENSP00000513006.1:n.*1942G>A
ENST00000696967.1:n.2562G>A
ENST00000696968.1:n.618G>A
ENST00000696969.1:n.2342G>A
ENST00000458235.7:c.*10G>A MANE Select ENSP00000391676.1:n.*10G>A
ENST00000458235.5:c.*10G>A ENSP00000391676.1:n.*10G>A
ENST00000527031.5:n.2279-1423G>A
ENST00000527670.5:c.*10G>A ENSP00000432511.1:n.*10G>A
NM_000215.3:c.*10G>A , LRG_77t1:c.*10G>A NP_000206.2:n.*10G>A
XM_005259896.2:c.*10G>A XP_005259953.1:n.*10G>A
XM_006722745.2:c.*10G>A XP_006722808.1:n.*10G>A
XM_005259896.3:c.*10G>A XP_005259953.1:n.*10G>A
NM_000215.4:c.*10G>A MANE Select NP_000206.2:n.*10G>A
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