Canonical Allele Identifier: CA404764100

Gene: JAK3

Linked Data

• COSMIC: COSM4617898 ; COSM4617899
• MyVariant Identifiers: chr19:g.17940975A>G (hg19) ; chr19:g.17830166A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830166A>G , CM000681.2:g.17830166A>G	GRCh38
NC_000019.9:g.17940975A>G , CM000681.1:g.17940975A>G	GRCh37
NC_000019.8:g.17801975A>G	NCBI36
NG_007273.1:g.22826T>C , LRG_77:g.22826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1706T>C	ENSP00000513006.1:n.*1706T>C
ENST00000696967.1:n.2326T>C
ENST00000696968.1:n.382T>C
ENST00000696969.1:n.2106T>C
ENST00000458235.7:c.3149T>C MANE Select	ENSP00000391676.1:p.Leu1050Pro
ENST00000458235.5:c.3149T>C	ENSP00000391676.1:p.Leu1050Pro
ENST00000527031.5:n.2279-4856T>C
ENST00000527670.5:c.3149T>C	ENSP00000432511.1:p.Leu1050Pro
ENST00000534444.1:c.3149T>C	ENSP00000436421.1:p.Leu1050Pro
NM_000215.3:c.3149T>C , LRG_77t1:c.3149T>C	NP_000206.2:p.Leu1050Pro
XM_005259896.2:c.3278T>C	XP_005259953.1:p.Leu1093Pro
XM_006722745.2:c.3149T>C	XP_006722808.1:p.Leu1050Pro
XM_005259896.3:c.3278T>C	XP_005259953.1:p.Leu1093Pro
NM_000215.4:c.3149T>C MANE Select	NP_000206.2:p.Leu1050Pro