Canonical Allele Identifier: CA632066070

Gene: JAK3

Linked Data

• dbSNP Id: rs1451777426
• gnomAD v2: 19-17940599-C-T
• gnomAD v3: 19-17829790-C-T
• gnomAD v4: 19-17829790-C-T
• MyVariant Identifiers: chr19:g.17940599C>T (hg19) ; chr19:g.17829790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829790C>T , CM000681.2:g.17829790C>T	GRCh38
NC_000019.9:g.17940599C>T , CM000681.1:g.17940599C>T	GRCh37
NC_000019.8:g.17801599C>T	NCBI36
NG_007273.1:g.23202G>A , LRG_77:g.23202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+318G>A	ENSP00000513006.1:n.*1764+318G>A
ENST00000696967.1:n.2384+318G>A
ENST00000696968.1:n.440+318G>A
ENST00000696969.1:n.2164+318G>A
ENST00000458235.7:c.3207+318G>A MANE Select	ENSP00000391676.1:n.3207+318G>A
ENST00000458235.5:c.3207+318G>A	ENSP00000391676.1:n.3207+318G>A
ENST00000527031.5:n.2279-4480G>A
ENST00000527670.5:c.3207+318G>A	ENSP00000432511.1:n.3207+318G>A
ENST00000534444.1:c.*240G>A	ENSP00000436421.1:n.*240G>A
NM_000215.3:c.3207+318G>A , LRG_77t1:c.3207+318G>A	NP_000206.2:n.3207+318G>A
XM_005259896.2:c.3336+318G>A	XP_005259953.1:n.3336+318G>A
XM_006722745.2:c.3207+318G>A	XP_006722808.1:n.3207+318G>A
XM_005259896.3:c.3336+318G>A	XP_005259953.1:n.3336+318G>A
NM_000215.4:c.3207+318G>A MANE Select	NP_000206.2:n.3207+318G>A