Canonical Allele Identifier: CA9301647

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2707600
• ClinVar RCV Id: RCV003510686
• dbSNP Id: rs766177811
• ExAC: 19:17945542 A / G
• gnomAD v2: 19-17945542-A-G
• gnomAD v4: 19-17834733-A-G
• MyVariant Identifiers: chr19:g.17945542A>G (hg19) ; chr19:g.17834733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834733A>G , CM000681.2:g.17834733A>G	GRCh38
NC_000019.9:g.17945542A>G , CM000681.1:g.17945542A>G	GRCh37
NC_000019.8:g.17806542A>G	NCBI36
NG_007273.1:g.18259T>C , LRG_77:g.18259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*757-12T>C	ENSP00000513006.1:n.*757-12T>C
ENST00000696967.1:n.1377-12T>C
ENST00000696970.1:n.855-12T>C
ENST00000458235.7:c.2200-12T>C MANE Select	ENSP00000391676.1:n.2200-12T>C
ENST00000458235.5:c.2200-12T>C	ENSP00000391676.1:n.2200-12T>C
ENST00000527031.5:n.2278+1994T>C
ENST00000527670.5:c.2200-12T>C	ENSP00000432511.1:n.2200-12T>C
ENST00000534444.1:c.2200-12T>C	ENSP00000436421.1:n.2200-12T>C
NM_000215.3:c.2200-12T>C , LRG_77t1:c.2200-12T>C	NP_000206.2:n.2200-12T>C
XM_005259896.2:c.2329-12T>C	XP_005259953.1:n.2329-12T>C
XM_006722745.2:c.2200-12T>C	XP_006722808.1:n.2200-12T>C
XM_011527990.1:c.2329-12T>C	XP_011526292.1:n.2329-12T>C
XR_430137.2:n.2339-12T>C
XM_005259896.3:c.2329-12T>C	XP_005259953.1:n.2329-12T>C
NM_000215.4:c.2200-12T>C MANE Select	NP_000206.2:n.2200-12T>C