Canonical Allele Identifier: CA994147204

Gene: JAK3

Linked Data

• dbSNP Id: rs2094225607
• gnomAD v3: 19-17837021-G-T
• gnomAD v4: 19-17837021-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837021G>T , CM000681.2:g.17837021G>T	GRCh38
NC_000019.9:g.17947830G>T , CM000681.1:g.17947830G>T	GRCh37
NC_000019.8:g.17808830G>T	NCBI36
NG_007273.1:g.15971C>A , LRG_77:g.15971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*343+108C>A	ENSP00000513006.1:n.*343+108C>A
ENST00000696967.1:n.963+108C>A
ENST00000696970.1:n.441+108C>A
ENST00000458235.7:c.1786+108C>A MANE Select	ENSP00000391676.1:n.1786+108C>A
ENST00000458235.5:c.1786+108C>A	ENSP00000391676.1:n.1786+108C>A
ENST00000527031.5:n.1984C>A
ENST00000527670.5:c.1786+108C>A	ENSP00000432511.1:n.1786+108C>A
ENST00000534444.1:c.1786+108C>A	ENSP00000436421.1:n.1786+108C>A
NM_000215.3:c.1786+108C>A , LRG_77t1:c.1786+108C>A	NP_000206.2:n.1786+108C>A
XM_005259896.2:c.1915+108C>A	XP_005259953.1:n.1915+108C>A
XM_006722745.2:c.1786+108C>A	XP_006722808.1:n.1786+108C>A
XM_011527990.1:c.1915+108C>A	XP_011526292.1:n.1915+108C>A
XM_011527991.1:c.1916-67C>A	XP_011526293.1:n.1916-67C>A
XR_430137.2:n.1925+108C>A
XM_005259896.3:c.1915+108C>A	XP_005259953.1:n.1915+108C>A
XM_011527991.2:c.1916-67C>A	XP_011526293.1:n.1916-67C>A
NM_000215.4:c.1786+108C>A MANE Select	NP_000206.2:n.1786+108C>A