Canonical Allele Identifier: CA404768047

Gene: JAK3

Linked Data

• dbSNP Id: rs1326000645
• gnomAD v2: 19-17945811-C-A
• gnomAD v3: 19-17835002-C-A
• gnomAD v4: 19-17835002-C-A
• MyVariant Identifiers: chr19:g.17945811C>A (hg19) ; chr19:g.17835002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835002C>A , CM000681.2:g.17835002C>A	GRCh38
NC_000019.9:g.17945811C>A , CM000681.1:g.17945811C>A	GRCh37
NC_000019.8:g.17806811C>A	NCBI36
NG_007273.1:g.17990G>T , LRG_77:g.17990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*606G>T	ENSP00000513006.1:n.*606G>T
ENST00000696967.1:n.1226G>T
ENST00000696970.1:n.704G>T
ENST00000458235.7:c.2049G>T MANE Select	ENSP00000391676.1:p.Met683Ile
ENST00000458235.5:c.2049G>T	ENSP00000391676.1:p.Met683Ile
ENST00000527031.5:n.2278+1725G>T
ENST00000527670.5:c.2049G>T	ENSP00000432511.1:p.Met683Ile
ENST00000534444.1:c.2049G>T	ENSP00000436421.1:p.Met683Ile
NM_000215.3:c.2049G>T , LRG_77t1:c.2049G>T	NP_000206.2:p.Met683Ile
XM_005259896.2:c.2178G>T	XP_005259953.1:p.Met726Ile
XM_006722745.2:c.2049G>T	XP_006722808.1:p.Met683Ile
XM_011527990.1:c.2178G>T	XP_011526292.1:p.Met726Ile
XR_430137.2:n.2188G>T
XM_005259896.3:c.2178G>T	XP_005259953.1:p.Met726Ile
NM_000215.4:c.2049G>T MANE Select	NP_000206.2:p.Met683Ile