Canonical Allele Identifier: CA404762894
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937554A>G (hg19) chr19:g.17826745A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826745A>G , CM000681.2:g.17826745A>G GRCh38
NC_000019.9:g.17937554A>G , CM000681.1:g.17937554A>G GRCh37
NC_000019.8:g.17798554A>G NCBI36
NG_007273.1:g.26247T>C , LRG_77:g.26247T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1930T>C ENSP00000513006.1:n.*1930T>C
ENST00000696967.1:n.2550T>C
ENST00000696968.1:n.606T>C
ENST00000696969.1:n.2330T>C
ENST00000458235.7:c.3373T>C MANE Select ENSP00000391676.1:p.Ter1125Gln
ENST00000458235.5:c.3373T>C ENSP00000391676.1:p.Ter1125Gln
ENST00000527031.5:n.2279-1435T>C
ENST00000527670.5:c.3373T>C ENSP00000432511.1:p.Ter1125Gln
NM_000215.3:c.3373T>C , LRG_77t1:c.3373T>C NP_000206.2:p.Ter1125Gln
XM_005259896.2:c.3502T>C XP_005259953.1:p.Ter1168Gln
XM_006722745.2:c.3373T>C XP_006722808.1:p.Ter1125Gln
XM_005259896.3:c.3502T>C XP_005259953.1:p.Ter1168Gln
NM_000215.4:c.3373T>C MANE Select NP_000206.2:p.Ter1125Gln
Search 100 bp 5'
Search 100 bp 3'