Canonical Allele Identifier: CA517403010
Gene: TBX22 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.79282217C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026718C>A , CM000685.2:g.80026718C>A GRCh38
NC_000023.10:g.79282217C>A , CM000685.1:g.79282217C>A GRCh37
NC_000023.9:g.79168873C>A NCBI36
NG_008998.1:g.16963C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.648C>A MANE Select ENSP00000362393.3:p.Ser216=
ENST00000373294.8:c.648C>A ENSP00000362390.5:p.Ser216=
ENST00000373296.7:c.648C>A ENSP00000362393.3:p.Ser216=
ENST00000626498.2:c.*260C>A ENSP00000487527.1:n.*260C>A
ENST00000626877.1:n.527C>A
NM_001109878.1:c.648C>A NP_001103348.1:p.Ser216=
NM_001109879.1:c.288C>A NP_001103349.1:p.Ser96=
NM_001303475.1:c.288C>A NP_001290404.1:p.Ser96=
NM_016954.2:c.648C>A NP_058650.1:p.Ser216=
XM_005262136.2:c.651C>A XP_005262193.1:p.Ser217=
XM_006724657.2:c.651C>A XP_006724720.1:p.Ser217=
XM_011530972.1:c.288C>A XP_011529274.1:p.Ser96=
NM_001109878.2:c.648C>A MANE Select NP_001103348.1:p.Ser216=
NM_001109879.2:c.288C>A NP_001103349.1:p.Ser96=