Canonical Allele Identifier: CA404764299

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830216-C-G
• MyVariant Identifiers: chr19:g.17941025C>G (hg19) ; chr19:g.17830216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830216C>G , CM000681.2:g.17830216C>G	GRCh38
NC_000019.9:g.17941025C>G , CM000681.1:g.17941025C>G	GRCh37
NC_000019.8:g.17802025C>G	NCBI36
NG_007273.1:g.22776G>C , LRG_77:g.22776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1656G>C	ENSP00000513006.1:n.*1656G>C
ENST00000696967.1:n.2276G>C
ENST00000696968.1:n.332G>C
ENST00000696969.1:n.2056G>C
ENST00000458235.7:c.3099G>C MANE Select	ENSP00000391676.1:p.Glu1033Asp
ENST00000458235.5:c.3099G>C	ENSP00000391676.1:p.Glu1033Asp
ENST00000527031.5:n.2279-4906G>C
ENST00000527670.5:c.3099G>C	ENSP00000432511.1:p.Glu1033Asp
ENST00000534444.1:c.3099G>C	ENSP00000436421.1:p.Glu1033Asp
NM_000215.3:c.3099G>C , LRG_77t1:c.3099G>C	NP_000206.2:p.Glu1033Asp
XM_005259896.2:c.3228G>C	XP_005259953.1:p.Glu1076Asp
XM_006722745.2:c.3099G>C	XP_006722808.1:p.Glu1033Asp
XM_005259896.3:c.3228G>C	XP_005259953.1:p.Glu1076Asp
NM_000215.4:c.3099G>C MANE Select	NP_000206.2:p.Glu1033Asp