Canonical Allele Identifier: CA9302134

Gene: JAK3

Linked Data

• dbSNP Id: rs771632271
• ExAC: 19:17953827 G / T
• gnomAD v2: 19-17953827-G-T
• gnomAD v4: 19-17843018-G-T
• MyVariant Identifiers: chr19:g.17953827G>T (hg19) ; chr19:g.17843018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843018G>T , CM000681.2:g.17843018G>T	GRCh38
NC_000019.9:g.17953827G>T , CM000681.1:g.17953827G>T	GRCh37
NC_000019.8:g.17814827G>T	NCBI36
NG_007273.1:g.9974C>A , LRG_77:g.9974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+9C>A	ENSP00000513006.1:n.566+9C>A
ENST00000458235.7:c.566+9C>A MANE Select	ENSP00000391676.1:n.566+9C>A
ENST00000458235.5:c.566+9C>A	ENSP00000391676.1:n.566+9C>A
ENST00000526008.5:n.666+9C>A
ENST00000527031.5:n.656+9C>A
ENST00000527670.5:c.566+9C>A	ENSP00000432511.1:n.566+9C>A
ENST00000528293.1:n.590C>A
ENST00000534444.1:c.566+9C>A	ENSP00000436421.1:n.566+9C>A
NM_000215.3:c.566+9C>A , LRG_77t1:c.566+9C>A	NP_000206.2:n.566+9C>A
XM_005259896.2:c.695+9C>A	XP_005259953.1:n.695+9C>A
XM_006722745.2:c.566+9C>A	XP_006722808.1:n.566+9C>A
XM_011527990.1:c.695+9C>A	XP_011526292.1:n.695+9C>A
XM_011527991.1:c.695+9C>A	XP_011526293.1:n.695+9C>A
XR_430137.2:n.705+9C>A
XM_005259896.3:c.695+9C>A	XP_005259953.1:n.695+9C>A
XM_011527991.2:c.695+9C>A	XP_011526293.1:n.695+9C>A
NM_000215.4:c.566+9C>A MANE Select	NP_000206.2:n.566+9C>A