Canonical Allele Identifier: CA994150972

Gene: JAK3

Linked Data

• dbSNP Id: rs2094246325
• gnomAD v3: 19-17844109-T-C
• gnomAD v4: 19-17844109-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844109T>C , CM000681.2:g.17844109T>C	GRCh38
NC_000019.9:g.17954918T>C , CM000681.1:g.17954918T>C	GRCh37
NC_000019.8:g.17815918T>C	NCBI36
NG_007273.1:g.8883A>G , LRG_77:g.8883A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+125A>G	ENSP00000513006.1:n.184+125A>G
ENST00000458235.7:c.184+125A>G MANE Select	ENSP00000391676.1:n.184+125A>G
ENST00000458235.5:c.184+125A>G	ENSP00000391676.1:n.184+125A>G
ENST00000526008.5:n.284+125A>G
ENST00000527031.5:n.274+125A>G
ENST00000527670.5:c.184+125A>G	ENSP00000432511.1:n.184+125A>G
ENST00000528293.1:n.323+125A>G
ENST00000534444.1:c.184+125A>G	ENSP00000436421.1:n.184+125A>G
NM_000215.3:c.184+125A>G , LRG_77t1:c.184+125A>G	NP_000206.2:n.184+125A>G
XM_005259896.2:c.313+125A>G	XP_005259953.1:n.313+125A>G
XM_006722745.2:c.184+125A>G	XP_006722808.1:n.184+125A>G
XM_011527990.1:c.313+125A>G	XP_011526292.1:n.313+125A>G
XM_011527991.1:c.313+125A>G	XP_011526293.1:n.313+125A>G
XR_430137.2:n.323+125A>G
XM_005259896.3:c.313+125A>G	XP_005259953.1:n.313+125A>G
XM_011527991.2:c.313+125A>G	XP_011526293.1:n.313+125A>G
NM_000215.4:c.184+125A>G MANE Select	NP_000206.2:n.184+125A>G