Canonical Allele Identifier: CA404764008

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830142-T-C
• MyVariant Identifiers: chr19:g.17940951T>C (hg19) ; chr19:g.17830142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830142T>C , CM000681.2:g.17830142T>C	GRCh38
NC_000019.9:g.17940951T>C , CM000681.1:g.17940951T>C	GRCh37
NC_000019.8:g.17801951T>C	NCBI36
NG_007273.1:g.22850A>G , LRG_77:g.22850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1730A>G	ENSP00000513006.1:n.*1730A>G
ENST00000696967.1:n.2350A>G
ENST00000696968.1:n.406A>G
ENST00000696969.1:n.2130A>G
ENST00000458235.7:c.3173A>G MANE Select	ENSP00000391676.1:p.Gln1058Arg
ENST00000458235.5:c.3173A>G	ENSP00000391676.1:p.Gln1058Arg
ENST00000527031.5:n.2279-4832A>G
ENST00000527670.5:c.3173A>G	ENSP00000432511.1:p.Gln1058Arg
ENST00000534444.1:c.3173A>G	ENSP00000436421.1:p.Gln1058Arg
NM_000215.3:c.3173A>G , LRG_77t1:c.3173A>G	NP_000206.2:p.Gln1058Arg
XM_005259896.2:c.3302A>G	XP_005259953.1:p.Gln1101Arg
XM_006722745.2:c.3173A>G	XP_006722808.1:p.Gln1058Arg
XM_005259896.3:c.3302A>G	XP_005259953.1:p.Gln1101Arg
NM_000215.4:c.3173A>G MANE Select	NP_000206.2:p.Gln1058Arg