Canonical Allele Identifier: CA404763252
Gene: JAK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826910C>G , CM000681.2:g.17826910C>G GRCh38
NC_000019.9:g.17937719C>G , CM000681.1:g.17937719C>G GRCh37
NC_000019.8:g.17798719C>G NCBI36
NG_007273.1:g.26082G>C , LRG_77:g.26082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765G>C ENSP00000513006.1:n.*1765G>C
ENST00000696967.1:n.2385G>C
ENST00000696968.1:n.441G>C
ENST00000696969.1:n.2165G>C
ENST00000458235.7:c.3208G>C MANE Select ENSP00000391676.1:p.Val1070Leu
ENST00000458235.5:c.3208G>C ENSP00000391676.1:p.Val1070Leu
ENST00000527031.5:n.2279-1600G>C
ENST00000527670.5:c.3208G>C ENSP00000432511.1:p.Val1070Leu
NM_000215.3:c.3208G>C , LRG_77t1:c.3208G>C NP_000206.2:p.Val1070Leu
XM_005259896.2:c.3337G>C XP_005259953.1:p.Val1113Leu
XM_006722745.2:c.3208G>C XP_006722808.1:p.Val1070Leu
XM_005259896.3:c.3337G>C XP_005259953.1:p.Val1113Leu
NM_000215.4:c.3208G>C MANE Select NP_000206.2:p.Val1070Leu