Canonical Allele Identifier: CA517402947
Gene: TBX22 HGNC NCBI

Linked Data

gnomAD v4: X-80025699-G-T
MyVariant Identifiers: chrX:g.79281198G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80025699G>T , CM000685.2:g.80025699G>T GRCh38
NC_000023.10:g.79281198G>T , CM000685.1:g.79281198G>T GRCh37
NC_000023.9:g.79167854G>T NCBI36
NG_008998.1:g.15944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.555G>T MANE Select ENSP00000362393.3:p.Ser185=
ENST00000373294.8:c.555G>T ENSP00000362390.5:p.Ser185=
ENST00000373296.7:c.555G>T ENSP00000362393.3:p.Ser185=
ENST00000626498.2:c.*167G>T ENSP00000487527.1:n.*167G>T
ENST00000626877.1:n.434G>T
NM_001109878.1:c.555G>T NP_001103348.1:p.Ser185=
NM_001109879.1:c.195G>T NP_001103349.1:p.Ser65=
NM_001303475.1:c.195G>T NP_001290404.1:p.Ser65=
NM_016954.2:c.555G>T NP_058650.1:p.Ser185=
XM_005262136.2:c.558G>T XP_005262193.1:p.Ser186=
XM_006724657.2:c.558G>T XP_006724720.1:p.Ser186=
XM_011530972.1:c.195G>T XP_011529274.1:p.Ser65=
NM_001109878.2:c.555G>T MANE Select NP_001103348.1:p.Ser185=
NM_001109879.2:c.195G>T NP_001103349.1:p.Ser65=