Canonical Allele Identifier: CA404767392

Gene: JAK3

Linked Data

• ClinVar Variation Id: 3017627
• ClinVar RCV Id: RCV003874226
• dbSNP Id: rs1297428679
• gnomAD v4: 19-17834642-A-G
• MyVariant Identifiers: chr19:g.17945451A>G (hg19) ; chr19:g.17834642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834642A>G , CM000681.2:g.17834642A>G	GRCh38
NC_000019.9:g.17945451A>G , CM000681.1:g.17945451A>G	GRCh37
NC_000019.8:g.17806451A>G	NCBI36
NG_007273.1:g.18350T>C , LRG_77:g.18350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*836T>C	ENSP00000513006.1:n.*836T>C
ENST00000696967.1:n.1456T>C
ENST00000696970.1:n.934T>C
ENST00000458235.7:c.2279T>C MANE Select	ENSP00000391676.1:p.Met760Thr
ENST00000458235.5:c.2279T>C	ENSP00000391676.1:p.Met760Thr
ENST00000527031.5:n.2278+2085T>C
ENST00000527670.5:c.2279T>C	ENSP00000432511.1:p.Met760Thr
ENST00000534444.1:c.2279T>C	ENSP00000436421.1:p.Met760Thr
NM_000215.3:c.2279T>C , LRG_77t1:c.2279T>C	NP_000206.2:p.Met760Thr
XM_005259896.2:c.2408T>C	XP_005259953.1:p.Met803Thr
XM_006722745.2:c.2279T>C	XP_006722808.1:p.Met760Thr
XM_011527990.1:c.2408T>C	XP_011526292.1:p.Met803Thr
XR_430137.2:n.2418T>C
XM_005259896.3:c.2408T>C	XP_005259953.1:p.Met803Thr
NM_000215.4:c.2279T>C MANE Select	NP_000206.2:p.Met760Thr