Canonical Allele Identifier: CA632135941

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2971774
• ClinVar RCV Id: RCV003832836
• dbSNP Id: rs1215357265
• gnomAD v2: 19-17953823-T-G
• gnomAD v4: 19-17843014-T-G
• MyVariant Identifiers: chr19:g.17953823T>G (hg19) ; chr19:g.17843014T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843014T>G , CM000681.2:g.17843014T>G	GRCh38
NC_000019.9:g.17953823T>G , CM000681.1:g.17953823T>G	GRCh37
NC_000019.8:g.17814823T>G	NCBI36
NG_007273.1:g.9978A>C , LRG_77:g.9978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+13A>C	ENSP00000513006.1:n.566+13A>C
ENST00000458235.7:c.566+13A>C MANE Select	ENSP00000391676.1:n.566+13A>C
ENST00000458235.5:c.566+13A>C	ENSP00000391676.1:n.566+13A>C
ENST00000526008.5:n.666+13A>C
ENST00000527031.5:n.656+13A>C
ENST00000527670.5:c.566+13A>C	ENSP00000432511.1:n.566+13A>C
ENST00000528293.1:n.594A>C
ENST00000534444.1:c.566+13A>C	ENSP00000436421.1:n.566+13A>C
NM_000215.3:c.566+13A>C , LRG_77t1:c.566+13A>C	NP_000206.2:n.566+13A>C
XM_005259896.2:c.695+13A>C	XP_005259953.1:n.695+13A>C
XM_006722745.2:c.566+13A>C	XP_006722808.1:n.566+13A>C
XM_011527990.1:c.695+13A>C	XP_011526292.1:n.695+13A>C
XM_011527991.1:c.695+13A>C	XP_011526293.1:n.695+13A>C
XR_430137.2:n.705+13A>C
XM_005259896.3:c.695+13A>C	XP_005259953.1:n.695+13A>C
XM_011527991.2:c.695+13A>C	XP_011526293.1:n.695+13A>C
NM_000215.4:c.566+13A>C MANE Select	NP_000206.2:n.566+13A>C