Canonical Allele Identifier: CA404763084
Gene: JAK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17937640T>C (hg19) chr19:g.17826831T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826831T>C , CM000681.2:g.17826831T>C GRCh38
NC_000019.9:g.17937640T>C , CM000681.1:g.17937640T>C GRCh37
NC_000019.8:g.17798640T>C NCBI36
NG_007273.1:g.26161A>G , LRG_77:g.26161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1844A>G ENSP00000513006.1:n.*1844A>G
ENST00000696967.1:n.2464A>G
ENST00000696968.1:n.520A>G
ENST00000696969.1:n.2244A>G
ENST00000458235.7:c.3287A>G MANE Select ENSP00000391676.1:p.Asp1096Gly
ENST00000458235.5:c.3287A>G ENSP00000391676.1:p.Asp1096Gly
ENST00000527031.5:n.2279-1521A>G
ENST00000527670.5:c.3287A>G ENSP00000432511.1:p.Asp1096Gly
NM_000215.3:c.3287A>G , LRG_77t1:c.3287A>G NP_000206.2:p.Asp1096Gly
XM_005259896.2:c.3416A>G XP_005259953.1:p.Asp1139Gly
XM_006722745.2:c.3287A>G XP_006722808.1:p.Asp1096Gly
XM_005259896.3:c.3416A>G XP_005259953.1:p.Asp1139Gly
NM_000215.4:c.3287A>G MANE Select NP_000206.2:p.Asp1096Gly
Search 100 bp 5'
Search 100 bp 3'