Canonical Allele Identifier: CA2582342946

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835226C>T , CM000681.2:g.17835226C>T	GRCh38
NC_000019.9:g.17946035C>T , CM000681.1:g.17946035C>T	GRCh37
NC_000019.8:g.17807035C>T	NCBI36
NG_007273.1:g.17766G>A , LRG_77:g.17766G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.1915-11G>A MANE Select	NP_000206.2:n.1915-11G>A
ENST00000458235.7:c.1915-11G>A MANE Select	ENSP00000391676.1:n.1915-11G>A
NM_000215.3:c.1915-11G>A , LRG_77t1:c.1915-11G>A	NP_000206.2:n.1915-11G>A
ENST00000458235.5:c.1915-11G>A	ENSP00000391676.1:n.1915-11G>A
ENST00000526008.6:c.*472-11G>A	ENSP00000513006.1:n.*472-11G>A
ENST00000527031.5:n.2278+1501G>A
ENST00000527670.5:c.1915-11G>A	ENSP00000432511.1:n.1915-11G>A
ENST00000534444.1:c.1915-11G>A	ENSP00000436421.1:n.1915-11G>A
ENST00000696967.1:n.1092-11G>A
ENST00000696970.1:n.570-11G>A
XM_005259896.2:c.2044-11G>A	XP_005259953.1:n.2044-11G>A
XM_005259896.3:c.2044-11G>A	XP_005259953.1:n.2044-11G>A
XM_006722745.2:c.1915-11G>A	XP_006722808.1:n.1915-11G>A
XM_011527990.1:c.2044-11G>A	XP_011526292.1:n.2044-11G>A
XR_430137.2:n.2054-11G>A