Canonical Allele Identifier: CA404774678

Gene: JAK3

Linked Data

• ClinVar Variation Id: 1475880
• ClinVar RCV Id: RCV001977633
• dbSNP Id: rs2094245829
• gnomAD v3: 19-17843868-G-C
• gnomAD v4: 19-17843868-G-C
• MyVariant Identifiers: chr19:g.17954677G>C (hg19) ; chr19:g.17843868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843868G>C , CM000681.2:g.17843868G>C	GRCh38
NC_000019.9:g.17954677G>C , CM000681.1:g.17954677G>C	GRCh37
NC_000019.8:g.17815677G>C	NCBI36
NG_007273.1:g.9124C>G , LRG_77:g.9124C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.217C>G	ENSP00000513006.1:p.Leu73Val
ENST00000458235.7:c.217C>G MANE Select	ENSP00000391676.1:p.Leu73Val
ENST00000458235.5:c.217C>G	ENSP00000391676.1:p.Leu73Val
ENST00000526008.5:n.317C>G
ENST00000527031.5:n.307C>G
ENST00000527670.5:c.217C>G	ENSP00000432511.1:p.Leu73Val
ENST00000528293.1:n.323+366C>G
ENST00000534444.1:c.217C>G	ENSP00000436421.1:p.Leu73Val
NM_000215.3:c.217C>G , LRG_77t1:c.217C>G	NP_000206.2:p.Leu73Val
XM_005259896.2:c.346C>G	XP_005259953.1:p.Leu116Val
XM_006722745.2:c.217C>G	XP_006722808.1:p.Leu73Val
XM_011527990.1:c.346C>G	XP_011526292.1:p.Leu116Val
XM_011527991.1:c.346C>G	XP_011526293.1:p.Leu116Val
XR_430137.2:n.356C>G
XM_005259896.3:c.346C>G	XP_005259953.1:p.Leu116Val
XM_011527991.2:c.346C>G	XP_011526293.1:p.Leu116Val
NM_000215.4:c.217C>G MANE Select	NP_000206.2:p.Leu73Val