Canonical Allele Identifier: CA404773732

Gene: JAK3

Linked Data

• dbSNP Id: rs2147699576
• MyVariant Identifiers: chr19:g.17954262T>A (hg19) ; chr19:g.17843453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843453T>A , CM000681.2:g.17843453T>A	GRCh38
NC_000019.9:g.17954262T>A , CM000681.1:g.17954262T>A	GRCh37
NC_000019.8:g.17815262T>A	NCBI36
NG_007273.1:g.9539A>T , LRG_77:g.9539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.347A>T	ENSP00000513006.1:p.His116Leu
ENST00000458235.7:c.347A>T MANE Select	ENSP00000391676.1:p.His116Leu
ENST00000458235.5:c.347A>T	ENSP00000391676.1:p.His116Leu
ENST00000526008.5:n.447A>T
ENST00000527031.5:n.437A>T
ENST00000527670.5:c.347A>T	ENSP00000432511.1:p.His116Leu
ENST00000528293.1:n.362A>T
ENST00000534444.1:c.347A>T	ENSP00000436421.1:p.His116Leu
NM_000215.3:c.347A>T , LRG_77t1:c.347A>T	NP_000206.2:p.His116Leu
XM_005259896.2:c.476A>T	XP_005259953.1:p.His159Leu
XM_006722745.2:c.347A>T	XP_006722808.1:p.His116Leu
XM_011527990.1:c.476A>T	XP_011526292.1:p.His159Leu
XM_011527991.1:c.476A>T	XP_011526293.1:p.His159Leu
XR_430137.2:n.486A>T
XM_005259896.3:c.476A>T	XP_005259953.1:p.His159Leu
XM_011527991.2:c.476A>T	XP_011526293.1:p.His159Leu
NM_000215.4:c.347A>T MANE Select	NP_000206.2:p.His116Leu