Canonical Allele Identifier: CA404773596

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843411-T-C
• MyVariant Identifiers: chr19:g.17954220T>C (hg19) ; chr19:g.17843411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843411T>C , CM000681.2:g.17843411T>C	GRCh38
NC_000019.9:g.17954220T>C , CM000681.1:g.17954220T>C	GRCh37
NC_000019.8:g.17815220T>C	NCBI36
NG_007273.1:g.9581A>G , LRG_77:g.9581A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.389A>G	ENSP00000513006.1:p.Asp130Gly
ENST00000458235.7:c.389A>G MANE Select	ENSP00000391676.1:p.Asp130Gly
ENST00000458235.5:c.389A>G	ENSP00000391676.1:p.Asp130Gly
ENST00000526008.5:n.489A>G
ENST00000527031.5:n.479A>G
ENST00000527670.5:c.389A>G	ENSP00000432511.1:p.Asp130Gly
ENST00000528293.1:n.404A>G
ENST00000534444.1:c.389A>G	ENSP00000436421.1:p.Asp130Gly
NM_000215.3:c.389A>G , LRG_77t1:c.389A>G	NP_000206.2:p.Asp130Gly
XM_005259896.2:c.518A>G	XP_005259953.1:p.Asp173Gly
XM_006722745.2:c.389A>G	XP_006722808.1:p.Asp130Gly
XM_011527990.1:c.518A>G	XP_011526292.1:p.Asp173Gly
XM_011527991.1:c.518A>G	XP_011526293.1:p.Asp173Gly
XR_430137.2:n.528A>G
XM_005259896.3:c.518A>G	XP_005259953.1:p.Asp173Gly
XM_011527991.2:c.518A>G	XP_011526293.1:p.Asp173Gly
NM_000215.4:c.389A>G MANE Select	NP_000206.2:p.Asp130Gly