Canonical Allele Identifier: CA9302158

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2877154
• ClinVar RCV Id: RCV003623620
• dbSNP Id: rs769468599
• ExAC: 19:17953931 C / T
• gnomAD v2: 19-17953931-C-T
• gnomAD v4: 19-17843122-C-T
• MyVariant Identifiers: chr19:g.17953931C>T (hg19) ; chr19:g.17843122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843122C>T , CM000681.2:g.17843122C>T	GRCh38
NC_000019.9:g.17953931C>T , CM000681.1:g.17953931C>T	GRCh37
NC_000019.8:g.17814931C>T	NCBI36
NG_007273.1:g.9870G>A , LRG_77:g.9870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.471G>A	ENSP00000513006.1:p.Lys157=
ENST00000458235.7:c.471G>A MANE Select	ENSP00000391676.1:p.Lys157=
ENST00000458235.5:c.471G>A	ENSP00000391676.1:p.Lys157=
ENST00000526008.5:n.571G>A
ENST00000527031.5:n.561G>A
ENST00000527670.5:c.471G>A	ENSP00000432511.1:p.Lys157=
ENST00000528293.1:n.486G>A
ENST00000534444.1:c.471G>A	ENSP00000436421.1:p.Lys157=
NM_000215.3:c.471G>A , LRG_77t1:c.471G>A	NP_000206.2:p.Lys157=
XM_005259896.2:c.600G>A	XP_005259953.1:p.Lys200=
XM_006722745.2:c.471G>A	XP_006722808.1:p.Lys157=
XM_011527990.1:c.600G>A	XP_011526292.1:p.Lys200=
XM_011527991.1:c.600G>A	XP_011526293.1:p.Lys200=
XR_430137.2:n.610G>A
XM_005259896.3:c.600G>A	XP_005259953.1:p.Lys200=
XM_011527991.2:c.600G>A	XP_011526293.1:p.Lys200=
NM_000215.4:c.471G>A MANE Select	NP_000206.2:p.Lys157=