Canonical Allele Identifier: CA913203356

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[17834926A>T;17836042A>C] , CM000681.2:g.[17834926A>T;17836042A>C]	GRCh38
NC_000019.9:g.[17945735A>T;17946851A>C] , CM000681.1:g.[17945735A>T;17946851A>C]	GRCh37
NC_000019.8:g.[17806735A>T;17807851A>C]	NCBI36
NG_007273.1:g.[16950T>G;18066T>A] , LRG_77:g.[16950T>G;18066T>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.[*353T>G;*682T>A]	ENSP00000513006.1:n.[*353T>G;*682T>A]
ENST00000696967.1:n.[973T>G;1302T>A]
ENST00000696970.1:n.[451T>G;780T>A]
ENST00000458235.7:c.[1796T>G;2125T>A] MANE Select	ENSP00000391676.1:p.[Val599Gly;Trp709Arg]
ENST00000458235.5:c.[1796T>G;2125T>A]	ENSP00000391676.1:p.[Val599Gly;Trp709Arg]
ENST00000527031.5:n.[2278+685T>G;2278+1801T>A]
ENST00000527670.5:c.[1796T>G;2125T>A]	ENSP00000432511.1:p.[Val599Gly;Trp709Arg]
ENST00000534444.1:c.[1796T>G;2125T>A]	ENSP00000436421.1:p.[Val599Gly;Trp709Arg]
NM_000215.3:c.[1796T>G;2125T>A] , LRG_77t1:c.[1796T>G;2125T>A]	NP_000206.2:p.[Val599Gly;Trp709Arg]
XM_005259896.2:c.[1925T>G;2254T>A]	XP_005259953.1:p.[Val642Gly;Trp752Arg]
XM_006722745.2:c.[1796T>G;2125T>A]	XP_006722808.1:p.[Val599Gly;Trp709Arg]
XM_011527990.1:c.[1925T>G;2254T>A]	XP_011526292.1:p.[Val642Gly;Trp752Arg]
XR_430137.2:n.[1935T>G;2264T>A]
XM_005259896.3:c.[1925T>G;2254T>A]	XP_005259953.1:p.[Val642Gly;Trp752Arg]
NM_000215.4:c.[1796T>G;2125T>A] MANE Select	NP_000206.2:p.[Val599Gly;Trp709Arg]