Canonical Allele Identifier: CA306119237
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs201426089
gnomAD v2: 19-17937376-C-T
gnomAD v3: 19-17826567-C-T
gnomAD v4: 19-17826567-C-T
MyVariant Identifiers: chr19:g.17937376C>T (hg19) chr19:g.17826567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826567C>T , CM000681.2:g.17826567C>T GRCh38
NC_000019.9:g.17937376C>T , CM000681.1:g.17937376C>T GRCh37
NC_000019.8:g.17798376C>T NCBI36
NG_007273.1:g.26425G>A , LRG_77:g.26425G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2108G>A ENSP00000513006.1:n.*2108G>A
ENST00000696967.1:n.2728G>A
ENST00000696968.1:n.784G>A
ENST00000696969.1:n.2508G>A
ENST00000458235.7:c.*176G>A MANE Select ENSP00000391676.1:n.*176G>A
ENST00000458235.5:c.*176G>A ENSP00000391676.1:n.*176G>A
ENST00000527031.5:n.2279-1257G>A
ENST00000527670.5:c.*176G>A ENSP00000432511.1:n.*176G>A
NM_000215.3:c.*176G>A , LRG_77t1:c.*176G>A NP_000206.2:n.*176G>A
XM_005259896.2:c.*176G>A XP_005259953.1:n.*176G>A
XM_006722745.2:c.*176G>A XP_006722808.1:n.*176G>A
XM_005259896.3:c.*176G>A XP_005259953.1:n.*176G>A
NM_000215.4:c.*176G>A MANE Select NP_000206.2:n.*176G>A
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