Canonical Allele Identifier: CA413740373
Gene: TBX22 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80025680A>T , CM000685.2:g.80025680A>T GRCh38
NC_000023.10:g.79281179A>T , CM000685.1:g.79281179A>T GRCh37
NC_000023.9:g.79167835A>T NCBI36
NG_008998.1:g.15925A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.536A>T MANE Select ENSP00000362393.3:p.His179Leu
ENST00000373294.8:c.536A>T ENSP00000362390.5:p.His179Leu
ENST00000373296.7:c.536A>T ENSP00000362393.3:p.His179Leu
ENST00000626498.2:c.*148A>T ENSP00000487527.1:n.*148A>T
ENST00000626877.1:n.415A>T
NM_001109878.1:c.536A>T NP_001103348.1:p.His179Leu
NM_001109879.1:c.176A>T NP_001103349.1:p.His59Leu
NM_001303475.1:c.176A>T NP_001290404.1:p.His59Leu
NM_016954.2:c.536A>T NP_058650.1:p.His179Leu
XM_005262136.2:c.539A>T XP_005262193.1:p.His180Leu
XM_006724657.2:c.539A>T XP_006724720.1:p.His180Leu
XM_011530972.1:c.176A>T XP_011529274.1:p.His59Leu
NM_001109878.2:c.536A>T MANE Select NP_001103348.1:p.His179Leu
NM_001109879.2:c.176A>T NP_001103349.1:p.His59Leu