Canonical Allele Identifier: CA404763240
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826904-C-A
MyVariant Identifiers: chr19:g.17937713C>A (hg19) chr19:g.17826904C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826904C>A , CM000681.2:g.17826904C>A GRCh38
NC_000019.9:g.17937713C>A , CM000681.1:g.17937713C>A GRCh37
NC_000019.8:g.17798713C>A NCBI36
NG_007273.1:g.26088G>T , LRG_77:g.26088G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1771G>T ENSP00000513006.1:n.*1771G>T
ENST00000696967.1:n.2391G>T
ENST00000696968.1:n.447G>T
ENST00000696969.1:n.2171G>T
ENST00000458235.7:c.3214G>T MANE Select ENSP00000391676.1:p.Glu1072Ter
ENST00000458235.5:c.3214G>T ENSP00000391676.1:p.Glu1072Ter
ENST00000527031.5:n.2279-1594G>T
ENST00000527670.5:c.3214G>T ENSP00000432511.1:p.Glu1072Ter
NM_000215.3:c.3214G>T , LRG_77t1:c.3214G>T NP_000206.2:p.Glu1072Ter
XM_005259896.2:c.3343G>T XP_005259953.1:p.Glu1115Ter
XM_006722745.2:c.3214G>T XP_006722808.1:p.Glu1072Ter
XM_005259896.3:c.3343G>T XP_005259953.1:p.Glu1115Ter
NM_000215.4:c.3214G>T MANE Select NP_000206.2:p.Glu1072Ter
Search 100 bp 5'
Search 100 bp 3'