Canonical Allele Identifier: CA506002605
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669908
MyVariant Identifiers: chr19:g.17937642C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826833C>A , CM000681.2:g.17826833C>A GRCh38
NC_000019.9:g.17937642C>A , CM000681.1:g.17937642C>A GRCh37
NC_000019.8:g.17798642C>A NCBI36
NG_007273.1:g.26159G>T , LRG_77:g.26159G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1842G>T ENSP00000513006.1:n.*1842G>T
ENST00000696967.1:n.2462G>T
ENST00000696968.1:n.518G>T
ENST00000696969.1:n.2242G>T
ENST00000458235.7:c.3285G>T MANE Select ENSP00000391676.1:p.Leu1095=
ENST00000458235.5:c.3285G>T ENSP00000391676.1:p.Leu1095=
ENST00000527031.5:n.2279-1523G>T
ENST00000527670.5:c.3285G>T ENSP00000432511.1:p.Leu1095=
NM_000215.3:c.3285G>T , LRG_77t1:c.3285G>T NP_000206.2:p.Leu1095=
XM_005259896.2:c.3414G>T XP_005259953.1:p.Leu1138=
XM_006722745.2:c.3285G>T XP_006722808.1:p.Leu1095=
XM_005259896.3:c.3414G>T XP_005259953.1:p.Leu1138=
NM_000215.4:c.3285G>T MANE Select NP_000206.2:p.Leu1095=
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