Canonical Allele Identifier: CA163006

Gene: JAK3

Linked Data

• ClinVar Variation Id: 135549
• ClinVar RCV Id: RCV000122409
• dbSNP Id: rs536358097
• ExAC: 19:17940844 C / T
• gnomAD v2: 19-17940844-C-T
• gnomAD v3: 19-17830035-C-T
• gnomAD v4: 19-17830035-C-T
• MyVariant Identifiers: chr19:g.17940844C>T (hg19) ; chr19:g.17830035C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830035C>T , CM000681.2:g.17830035C>T	GRCh38
NC_000019.9:g.17940844C>T , CM000681.1:g.17940844C>T	GRCh37
NC_000019.8:g.17801844C>T	NCBI36
NG_007273.1:g.22957G>A , LRG_77:g.22957G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+73G>A	ENSP00000513006.1:n.*1764+73G>A
ENST00000696967.1:n.2384+73G>A
ENST00000696968.1:n.440+73G>A
ENST00000696969.1:n.2164+73G>A
ENST00000458235.7:c.3207+73G>A MANE Select	ENSP00000391676.1:n.3207+73G>A
ENST00000458235.5:c.3207+73G>A	ENSP00000391676.1:n.3207+73G>A
ENST00000527031.5:n.2279-4725G>A
ENST00000527670.5:c.3207+73G>A	ENSP00000432511.1:n.3207+73G>A
ENST00000534444.1:c.3280G>A	ENSP00000436421.1:p.Ala1094Thr
NM_000215.3:c.3207+73G>A , LRG_77t1:c.3207+73G>A	NP_000206.2:n.3207+73G>A
XM_005259896.2:c.3336+73G>A	XP_005259953.1:n.3336+73G>A
XM_006722745.2:c.3207+73G>A	XP_006722808.1:n.3207+73G>A
XM_005259896.3:c.3336+73G>A	XP_005259953.1:n.3336+73G>A
NM_000215.4:c.3207+73G>A MANE Select	NP_000206.2:n.3207+73G>A