Canonical Allele Identifier: CA404769131

Gene: JAK3

Linked Data

• gnomAD v4: 19-17837159-G-T
• MyVariant Identifiers: chr19:g.17947968G>T (hg19) ; chr19:g.17837159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837159G>T , CM000681.2:g.17837159G>T	GRCh38
NC_000019.9:g.17947968G>T , CM000681.1:g.17947968G>T	GRCh37
NC_000019.8:g.17808968G>T	NCBI36
NG_007273.1:g.15833C>A , LRG_77:g.15833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*313C>A	ENSP00000513006.1:n.*313C>A
ENST00000696967.1:n.933C>A
ENST00000696970.1:n.411C>A
ENST00000458235.7:c.1756C>A MANE Select	ENSP00000391676.1:p.Leu586Met
ENST00000458235.5:c.1756C>A	ENSP00000391676.1:p.Leu586Met
ENST00000527031.5:n.1846C>A
ENST00000527670.5:c.1756C>A	ENSP00000432511.1:p.Leu586Met
ENST00000534444.1:c.1756C>A	ENSP00000436421.1:p.Leu586Met
NM_000215.3:c.1756C>A , LRG_77t1:c.1756C>A	NP_000206.2:p.Leu586Met
XM_005259896.2:c.1885C>A	XP_005259953.1:p.Leu629Met
XM_006722745.2:c.1756C>A	XP_006722808.1:p.Leu586Met
XM_011527990.1:c.1885C>A	XP_011526292.1:p.Leu629Met
XM_011527991.1:c.1885C>A	XP_011526293.1:p.Leu629Met
XR_430137.2:n.1895C>A
XM_005259896.3:c.1885C>A	XP_005259953.1:p.Leu629Met
XM_011527991.2:c.1885C>A	XP_011526293.1:p.Leu629Met
NM_000215.4:c.1756C>A MANE Select	NP_000206.2:p.Leu586Met