Canonical Allele Identifier: CA506002828

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2769161
• ClinVar RCV Id: RCV003510360
• dbSNP Id: rs369402343
• gnomAD v2: 19-17940941-C-T
• gnomAD v4: 19-17830132-C-T
• MyVariant Identifiers: chr19:g.17940941C>T (hg19) ; chr19:g.17830132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830132C>T , CM000681.2:g.17830132C>T	GRCh38
NC_000019.9:g.17940941C>T , CM000681.1:g.17940941C>T	GRCh37
NC_000019.8:g.17801941C>T	NCBI36
NG_007273.1:g.22860G>A , LRG_77:g.22860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1740G>A	ENSP00000513006.1:n.*1740G>A
ENST00000696967.1:n.2360G>A
ENST00000696968.1:n.416G>A
ENST00000696969.1:n.2140G>A
ENST00000458235.7:c.3183G>A MANE Select	ENSP00000391676.1:p.Pro1061=
ENST00000458235.5:c.3183G>A	ENSP00000391676.1:p.Pro1061=
ENST00000527031.5:n.2279-4822G>A
ENST00000527670.5:c.3183G>A	ENSP00000432511.1:p.Pro1061=
ENST00000534444.1:c.3183G>A	ENSP00000436421.1:p.Pro1061=
NM_000215.3:c.3183G>A , LRG_77t1:c.3183G>A	NP_000206.2:p.Pro1061=
XM_005259896.2:c.3312G>A	XP_005259953.1:p.Pro1104=
XM_006722745.2:c.3183G>A	XP_006722808.1:p.Pro1061=
XM_005259896.3:c.3312G>A	XP_005259953.1:p.Pro1104=
NM_000215.4:c.3183G>A MANE Select	NP_000206.2:p.Pro1061=