Canonical Allele Identifier: CA404768095

Gene: JAK3

Linked Data

• dbSNP Id: rs1568402956
• gnomAD v4: 19-17835086-C-G
• MyVariant Identifiers: chr19:g.17945895C>G (hg19) ; chr19:g.17835086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835086C>G , CM000681.2:g.17835086C>G	GRCh38
NC_000019.9:g.17945895C>G , CM000681.1:g.17945895C>G	GRCh37
NC_000019.8:g.17806895C>G	NCBI36
NG_007273.1:g.17906G>C , LRG_77:g.17906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*601G>C	ENSP00000513006.1:n.*601G>C
ENST00000696967.1:n.1221G>C
ENST00000696970.1:n.699G>C
ENST00000458235.7:c.2044G>C MANE Select	ENSP00000391676.1:p.Glu682Gln
ENST00000458235.5:c.2044G>C	ENSP00000391676.1:p.Glu682Gln
ENST00000527031.5:n.2278+1641G>C
ENST00000527670.5:c.2044G>C	ENSP00000432511.1:p.Glu682Gln
ENST00000534444.1:c.2044G>C	ENSP00000436421.1:p.Glu682Gln
NM_000215.3:c.2044G>C , LRG_77t1:c.2044G>C	NP_000206.2:p.Glu682Gln
XM_005259896.2:c.2173G>C	XP_005259953.1:p.Glu725Gln
XM_006722745.2:c.2044G>C	XP_006722808.1:p.Glu682Gln
XM_011527990.1:c.2173G>C	XP_011526292.1:p.Glu725Gln
XR_430137.2:n.2183G>C
XM_005259896.3:c.2173G>C	XP_005259953.1:p.Glu725Gln
NM_000215.4:c.2044G>C MANE Select	NP_000206.2:p.Glu682Gln