Canonical Allele Identifier: CA306131949

Gene: JAK3

Linked Data

• dbSNP Id: rs200582253
• MyVariant Identifiers: chr19:g.17947972G>C (hg19) ; chr19:g.17837163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837163G>C , CM000681.2:g.17837163G>C	GRCh38
NC_000019.9:g.17947972G>C , CM000681.1:g.17947972G>C	GRCh37
NC_000019.8:g.17808972G>C	NCBI36
NG_007273.1:g.15829C>G , LRG_77:g.15829C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*309C>G	ENSP00000513006.1:n.*309C>G
ENST00000696967.1:n.929C>G
ENST00000696970.1:n.407C>G
ENST00000458235.7:c.1752C>G MANE Select	ENSP00000391676.1:p.Leu584=
ENST00000458235.5:c.1752C>G	ENSP00000391676.1:p.Leu584=
ENST00000527031.5:n.1842C>G
ENST00000527670.5:c.1752C>G	ENSP00000432511.1:p.Leu584=
ENST00000534444.1:c.1752C>G	ENSP00000436421.1:p.Leu584=
NM_000215.3:c.1752C>G , LRG_77t1:c.1752C>G	NP_000206.2:p.Leu584=
XM_005259896.2:c.1881C>G	XP_005259953.1:p.Leu627=
XM_006722745.2:c.1752C>G	XP_006722808.1:p.Leu584=
XM_011527990.1:c.1881C>G	XP_011526292.1:p.Leu627=
XM_011527991.1:c.1881C>G	XP_011526293.1:p.Leu627=
XR_430137.2:n.1891C>G
XM_005259896.3:c.1881C>G	XP_005259953.1:p.Leu627=
XM_011527991.2:c.1881C>G	XP_011526293.1:p.Leu627=
NM_000215.4:c.1752C>G MANE Select	NP_000206.2:p.Leu584=