Canonical Allele Identifier: CA2813814480

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17836988A>G , CM000681.2:g.17836988A>G	GRCh38
NC_000019.9:g.17947797A>G , CM000681.1:g.17947797A>G	GRCh37
NC_000019.8:g.17808797A>G	NCBI36
NG_007273.1:g.16004T>C , LRG_77:g.16004T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*343+141T>C	ENSP00000513006.1:n.*343+141T>C
ENST00000696967.1:n.963+141T>C
ENST00000696970.1:n.441+141T>C
ENST00000458235.7:c.1786+141T>C MANE Select	ENSP00000391676.1:n.1786+141T>C
ENST00000458235.5:c.1786+141T>C	ENSP00000391676.1:n.1786+141T>C
ENST00000527031.5:n.2017T>C
ENST00000527670.5:c.1786+141T>C	ENSP00000432511.1:n.1786+141T>C
ENST00000534444.1:c.1786+141T>C	ENSP00000436421.1:n.1786+141T>C
NM_000215.3:c.1786+141T>C , LRG_77t1:c.1786+141T>C	NP_000206.2:n.1786+141T>C
XM_005259896.2:c.1915+141T>C	XP_005259953.1:n.1915+141T>C
XM_006722745.2:c.1786+141T>C	XP_006722808.1:n.1786+141T>C
XM_011527990.1:c.1915+141T>C	XP_011526292.1:n.1915+141T>C
XM_011527991.1:c.1916-34T>C	XP_011526293.1:n.1916-34T>C
XR_430137.2:n.1925+141T>C
XM_005259896.3:c.1915+141T>C	XP_005259953.1:n.1915+141T>C
XM_011527991.2:c.1916-34T>C	XP_011526293.1:n.1916-34T>C
NM_000215.4:c.1786+141T>C MANE Select	NP_000206.2:n.1786+141T>C