Canonical Allele Identifier: CA404773030

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17953851A>T (hg19) ; chr19:g.17843042A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843042A>T , CM000681.2:g.17843042A>T	GRCh38
NC_000019.9:g.17953851A>T , CM000681.1:g.17953851A>T	GRCh37
NC_000019.8:g.17814851A>T	NCBI36
NG_007273.1:g.9950T>A , LRG_77:g.9950T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.551T>A	ENSP00000513006.1:p.Leu184Gln
ENST00000458235.7:c.551T>A MANE Select	ENSP00000391676.1:p.Leu184Gln
ENST00000458235.5:c.551T>A	ENSP00000391676.1:p.Leu184Gln
ENST00000526008.5:n.651T>A
ENST00000527031.5:n.641T>A
ENST00000527670.5:c.551T>A	ENSP00000432511.1:p.Leu184Gln
ENST00000528293.1:n.566T>A
ENST00000534444.1:c.551T>A	ENSP00000436421.1:p.Leu184Gln
NM_000215.3:c.551T>A , LRG_77t1:c.551T>A	NP_000206.2:p.Leu184Gln
XM_005259896.2:c.680T>A	XP_005259953.1:p.Leu227Gln
XM_006722745.2:c.551T>A	XP_006722808.1:p.Leu184Gln
XM_011527990.1:c.680T>A	XP_011526292.1:p.Leu227Gln
XM_011527991.1:c.680T>A	XP_011526293.1:p.Leu227Gln
XR_430137.2:n.690T>A
XM_005259896.3:c.680T>A	XP_005259953.1:p.Leu227Gln
XM_011527991.2:c.680T>A	XP_011526293.1:p.Leu227Gln
NM_000215.4:c.551T>A MANE Select	NP_000206.2:p.Leu184Gln