Canonical Allele Identifier: CA506106043

Gene: JAK3

Linked Data

• COSMIC: COSM1304182 ; COSM1304183
• MyVariant Identifiers: chr19:g.17953847C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843038C>T , CM000681.2:g.17843038C>T	GRCh38
NC_000019.9:g.17953847C>T , CM000681.1:g.17953847C>T	GRCh37
NC_000019.8:g.17814847C>T	NCBI36
NG_007273.1:g.9954G>A , LRG_77:g.9954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.555G>A	ENSP00000513006.1:p.Leu185=
ENST00000458235.7:c.555G>A MANE Select	ENSP00000391676.1:p.Leu185=
ENST00000458235.5:c.555G>A	ENSP00000391676.1:p.Leu185=
ENST00000526008.5:n.655G>A
ENST00000527031.5:n.645G>A
ENST00000527670.5:c.555G>A	ENSP00000432511.1:p.Leu185=
ENST00000528293.1:n.570G>A
ENST00000534444.1:c.555G>A	ENSP00000436421.1:p.Leu185=
NM_000215.3:c.555G>A , LRG_77t1:c.555G>A	NP_000206.2:p.Leu185=
XM_005259896.2:c.684G>A	XP_005259953.1:p.Leu228=
XM_006722745.2:c.555G>A	XP_006722808.1:p.Leu185=
XM_011527990.1:c.684G>A	XP_011526292.1:p.Leu228=
XM_011527991.1:c.684G>A	XP_011526293.1:p.Leu228=
XR_430137.2:n.694G>A
XM_005259896.3:c.684G>A	XP_005259953.1:p.Leu228=
XM_011527991.2:c.684G>A	XP_011526293.1:p.Leu228=
NM_000215.4:c.555G>A MANE Select	NP_000206.2:p.Leu185=