Canonical Allele Identifier: CA506002940

Gene: JAK3

Linked Data

• dbSNP Id: rs1157866411
• gnomAD v2: 19-17941022-G-A
• gnomAD v4: 19-17830213-G-A
• COSMIC: COSM5609204 ; COSM5609205
• MyVariant Identifiers: chr19:g.17941022G>A (hg19) ; chr19:g.17830213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830213G>A , CM000681.2:g.17830213G>A	GRCh38
NC_000019.9:g.17941022G>A , CM000681.1:g.17941022G>A	GRCh37
NC_000019.8:g.17802022G>A	NCBI36
NG_007273.1:g.22779C>T , LRG_77:g.22779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1659C>T	ENSP00000513006.1:n.*1659C>T
ENST00000696967.1:n.2279C>T
ENST00000696968.1:n.335C>T
ENST00000696969.1:n.2059C>T
ENST00000458235.7:c.3102C>T MANE Select	ENSP00000391676.1:p.Phe1034=
ENST00000458235.5:c.3102C>T	ENSP00000391676.1:p.Phe1034=
ENST00000527031.5:n.2279-4903C>T
ENST00000527670.5:c.3102C>T	ENSP00000432511.1:p.Phe1034=
ENST00000534444.1:c.3102C>T	ENSP00000436421.1:p.Phe1034=
NM_000215.3:c.3102C>T , LRG_77t1:c.3102C>T	NP_000206.2:p.Phe1034=
XM_005259896.2:c.3231C>T	XP_005259953.1:p.Phe1077=
XM_006722745.2:c.3102C>T	XP_006722808.1:p.Phe1034=
XM_005259896.3:c.3231C>T	XP_005259953.1:p.Phe1077=
NM_000215.4:c.3102C>T MANE Select	NP_000206.2:p.Phe1034=