Canonical Allele Identifier: CA143734
Gene: TBX22 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.80025598T>A
GRCh37 chrX:g.79281097T>A
gnomAD v2:
X:79281097 T / A
gnomAD v3:
X:80025598 T / A
gnomAD v4:
chrX-80025598-T-A
Joint Max Group AF 0.00341773 (MID)
Genomes Max Group AF 0.00020305 (NFE)
Exomes Max Group AF 0.00361606 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80025598T>A , CM000685.2:g.80025598T>A GRCh38
NC_000023.10:g.79281097T>A , CM000685.1:g.79281097T>A GRCh37
NC_000023.9:g.79167753T>A NCBI36
NG_008998.1:g.15843T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.459-5T>A MANE Select ENSP00000362393.3:n.459-5T>A
ENST00000373294.8:c.459-5T>A ENSP00000362390.5:n.459-5T>A
ENST00000373296.7:c.459-5T>A ENSP00000362393.3:n.459-5T>A
ENST00000626498.2:c.*71-5T>A ENSP00000487527.1:n.*71-5T>A
ENST00000626877.1:n.338-5T>A
NM_001109878.1:c.459-5T>A NP_001103348.1:n.459-5T>A
NM_001109879.1:c.99-5T>A NP_001103349.1:n.99-5T>A
NM_001303475.1:c.99-5T>A NP_001290404.1:n.99-5T>A
NM_016954.2:c.459-5T>A NP_058650.1:n.459-5T>A
XM_005262136.2:c.462-5T>A XP_005262193.1:n.462-5T>A
XM_006724657.2:c.462-5T>A XP_006724720.1:n.462-5T>A
XM_011530972.1:c.99-5T>A XP_011529274.1:n.99-5T>A
NM_001109878.2:c.459-5T>A MANE Select NP_001103348.1:n.459-5T>A
NM_001109879.2:c.99-5T>A NP_001103349.1:n.99-5T>A
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