Canonical Allele Identifier: CA404763632

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830040-G-A
• MyVariant Identifiers: chr19:g.17940849G>A (hg19) ; chr19:g.17830040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830040G>A , CM000681.2:g.17830040G>A	GRCh38
NC_000019.9:g.17940849G>A , CM000681.1:g.17940849G>A	GRCh37
NC_000019.8:g.17801849G>A	NCBI36
NG_007273.1:g.22952C>T , LRG_77:g.22952C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+68C>T	ENSP00000513006.1:n.*1764+68C>T
ENST00000696967.1:n.2384+68C>T
ENST00000696968.1:n.440+68C>T
ENST00000696969.1:n.2164+68C>T
ENST00000458235.7:c.3207+68C>T MANE Select	ENSP00000391676.1:n.3207+68C>T
ENST00000458235.5:c.3207+68C>T	ENSP00000391676.1:n.3207+68C>T
ENST00000527031.5:n.2279-4730C>T
ENST00000527670.5:c.3207+68C>T	ENSP00000432511.1:n.3207+68C>T
ENST00000534444.1:c.3275C>T	ENSP00000436421.1:p.Ala1092Val
NM_000215.3:c.3207+68C>T , LRG_77t1:c.3207+68C>T	NP_000206.2:n.3207+68C>T
XM_005259896.2:c.3336+68C>T	XP_005259953.1:n.3336+68C>T
XM_006722745.2:c.3207+68C>T	XP_006722808.1:n.3207+68C>T
XM_005259896.3:c.3336+68C>T	XP_005259953.1:n.3336+68C>T
NM_000215.4:c.3207+68C>T MANE Select	NP_000206.2:n.3207+68C>T