Canonical Allele Identifier: CA9301799

Gene: JAK3

Linked Data

• ClinVar Variation Id: 1037955
• ClinVar RCV Id: RCV001341188
• dbSNP Id: rs199600889
• ExAC: 19:17947971 C / T
• gnomAD v2: 19-17947971-C-T
• gnomAD v3: 19-17837162-C-T
• gnomAD v4: 19-17837162-C-T
• MyVariant Identifiers: chr19:g.17947971C>T (hg19) ; chr19:g.17837162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837162C>T , CM000681.2:g.17837162C>T	GRCh38
NC_000019.9:g.17947971C>T , CM000681.1:g.17947971C>T	GRCh37
NC_000019.8:g.17808971C>T	NCBI36
NG_007273.1:g.15830G>A , LRG_77:g.15830G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*310G>A	ENSP00000513006.1:n.*310G>A
ENST00000696967.1:n.930G>A
ENST00000696970.1:n.408G>A
ENST00000458235.7:c.1753G>A MANE Select	ENSP00000391676.1:p.Val585Met
ENST00000458235.5:c.1753G>A	ENSP00000391676.1:p.Val585Met
ENST00000527031.5:n.1843G>A
ENST00000527670.5:c.1753G>A	ENSP00000432511.1:p.Val585Met
ENST00000534444.1:c.1753G>A	ENSP00000436421.1:p.Val585Met
NM_000215.3:c.1753G>A , LRG_77t1:c.1753G>A	NP_000206.2:p.Val585Met
XM_005259896.2:c.1882G>A	XP_005259953.1:p.Val628Met
XM_006722745.2:c.1753G>A	XP_006722808.1:p.Val585Met
XM_011527990.1:c.1882G>A	XP_011526292.1:p.Val628Met
XM_011527991.1:c.1882G>A	XP_011526293.1:p.Val628Met
XR_430137.2:n.1892G>A
XM_005259896.3:c.1882G>A	XP_005259953.1:p.Val628Met
XM_011527991.2:c.1882G>A	XP_011526293.1:p.Val628Met
NM_000215.4:c.1753G>A MANE Select	NP_000206.2:p.Val585Met