Canonical Allele Identifier: CA2326057415

Gene: JAK3

Linked Data

• dbSNP Id: rs2094243490
• gnomAD v4: 19-17842952-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842952C>A , CM000681.2:g.17842952C>A	GRCh38
NC_000019.9:g.17953761C>A , CM000681.1:g.17953761C>A	GRCh37
NC_000019.8:g.17814761C>A	NCBI36
NG_007273.1:g.10040G>T , LRG_77:g.10040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+75G>T	ENSP00000513006.1:n.566+75G>T
ENST00000458235.7:c.566+75G>T MANE Select	ENSP00000391676.1:n.566+75G>T
ENST00000458235.5:c.566+75G>T	ENSP00000391676.1:n.566+75G>T
ENST00000526008.5:n.666+75G>T
ENST00000527031.5:n.656+75G>T
ENST00000527670.5:c.566+75G>T	ENSP00000432511.1:n.566+75G>T
ENST00000528293.1:n.656G>T
ENST00000534444.1:c.566+75G>T	ENSP00000436421.1:n.566+75G>T
NM_000215.3:c.566+75G>T , LRG_77t1:c.566+75G>T	NP_000206.2:n.566+75G>T
XM_005259896.2:c.695+75G>T	XP_005259953.1:n.695+75G>T
XM_006722745.2:c.566+75G>T	XP_006722808.1:n.566+75G>T
XM_011527990.1:c.695+75G>T	XP_011526292.1:n.695+75G>T
XM_011527991.1:c.695+75G>T	XP_011526293.1:n.695+75G>T
XR_430137.2:n.705+75G>T
XM_005259896.3:c.695+75G>T	XP_005259953.1:n.695+75G>T
XM_011527991.2:c.695+75G>T	XP_011526293.1:n.695+75G>T
NM_000215.4:c.566+75G>T MANE Select	NP_000206.2:n.566+75G>T