Canonical Allele Identifier: CA2583421696

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829751-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829751A>C , CM000681.2:g.17829751A>C	GRCh38
NC_000019.9:g.17940560A>C , CM000681.1:g.17940560A>C	GRCh37
NC_000019.8:g.17801560A>C	NCBI36
NG_007273.1:g.23241T>G , LRG_77:g.23241T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+357T>G	ENSP00000513006.1:n.*1764+357T>G
ENST00000696967.1:n.2384+357T>G
ENST00000696968.1:n.440+357T>G
ENST00000696969.1:n.2164+357T>G
ENST00000458235.7:c.3207+357T>G MANE Select	ENSP00000391676.1:n.3207+357T>G
ENST00000458235.5:c.3207+357T>G	ENSP00000391676.1:n.3207+357T>G
ENST00000527031.5:n.2279-4441T>G
ENST00000527670.5:c.3207+357T>G	ENSP00000432511.1:n.3207+357T>G
NM_000215.3:c.3207+357T>G , LRG_77t1:c.3207+357T>G	NP_000206.2:n.3207+357T>G
XM_005259896.2:c.3336+357T>G	XP_005259953.1:n.3336+357T>G
XM_006722745.2:c.3207+357T>G	XP_006722808.1:n.3207+357T>G
XM_005259896.3:c.3336+357T>G	XP_005259953.1:n.3336+357T>G
NM_000215.4:c.3207+357T>G MANE Select	NP_000206.2:n.3207+357T>G