Canonical Allele Identifier: CA506004120

Gene: JAK3

Linked Data

• gnomAD v4: 19-17837154-G-T
• MyVariant Identifiers: chr19:g.17947963G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837154G>T , CM000681.2:g.17837154G>T	GRCh38
NC_000019.9:g.17947963G>T , CM000681.1:g.17947963G>T	GRCh37
NC_000019.8:g.17808963G>T	NCBI36
NG_007273.1:g.15838C>A , LRG_77:g.15838C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*318C>A	ENSP00000513006.1:n.*318C>A
ENST00000696967.1:n.938C>A
ENST00000696970.1:n.416C>A
ENST00000458235.7:c.1761C>A MANE Select	ENSP00000391676.1:p.Leu587=
ENST00000458235.5:c.1761C>A	ENSP00000391676.1:p.Leu587=
ENST00000527031.5:n.1851C>A
ENST00000527670.5:c.1761C>A	ENSP00000432511.1:p.Leu587=
ENST00000534444.1:c.1761C>A	ENSP00000436421.1:p.Leu587=
NM_000215.3:c.1761C>A , LRG_77t1:c.1761C>A	NP_000206.2:p.Leu587=
XM_005259896.2:c.1890C>A	XP_005259953.1:p.Leu630=
XM_006722745.2:c.1761C>A	XP_006722808.1:p.Leu587=
XM_011527990.1:c.1890C>A	XP_011526292.1:p.Leu630=
XM_011527991.1:c.1890C>A	XP_011526293.1:p.Leu630=
XR_430137.2:n.1900C>A
XM_005259896.3:c.1890C>A	XP_005259953.1:p.Leu630=
XM_011527991.2:c.1890C>A	XP_011526293.1:p.Leu630=
NM_000215.4:c.1761C>A MANE Select	NP_000206.2:p.Leu587=