Canonical Allele Identifier: CA404763826

Gene: JAK3

Linked Data

• dbSNP Id: rs2147673773
• MyVariant Identifiers: chr19:g.17940900A>T (hg19) ; chr19:g.17830091A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830091A>T , CM000681.2:g.17830091A>T	GRCh38
NC_000019.9:g.17940900A>T , CM000681.1:g.17940900A>T	GRCh37
NC_000019.8:g.17801900A>T	NCBI36
NG_007273.1:g.22901T>A , LRG_77:g.22901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+17T>A	ENSP00000513006.1:n.*1764+17T>A
ENST00000696967.1:n.2384+17T>A
ENST00000696968.1:n.440+17T>A
ENST00000696969.1:n.2164+17T>A
ENST00000458235.7:c.3207+17T>A MANE Select	ENSP00000391676.1:n.3207+17T>A
ENST00000458235.5:c.3207+17T>A	ENSP00000391676.1:n.3207+17T>A
ENST00000527031.5:n.2279-4781T>A
ENST00000527670.5:c.3207+17T>A	ENSP00000432511.1:n.3207+17T>A
ENST00000534444.1:c.3224T>A	ENSP00000436421.1:p.Leu1075Gln
NM_000215.3:c.3207+17T>A , LRG_77t1:c.3207+17T>A	NP_000206.2:n.3207+17T>A
XM_005259896.2:c.3336+17T>A	XP_005259953.1:n.3336+17T>A
XM_006722745.2:c.3207+17T>A	XP_006722808.1:n.3207+17T>A
XM_005259896.3:c.3336+17T>A	XP_005259953.1:n.3336+17T>A
NM_000215.4:c.3207+17T>A MANE Select	NP_000206.2:n.3207+17T>A