Canonical Allele Identifier: CA517403022
Gene: TBX22 HGNC NCBI

Linked Data

gnomAD v4: X-80026739-A-C
MyVariant Identifiers: chrX:g.79282238A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026739A>C , CM000685.2:g.80026739A>C GRCh38
NC_000023.10:g.79282238A>C , CM000685.1:g.79282238A>C GRCh37
NC_000023.9:g.79168894A>C NCBI36
NG_008998.1:g.16984A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.669A>C MANE Select ENSP00000362393.3:p.Arg223=
ENST00000373294.8:c.669A>C ENSP00000362390.5:p.Arg223=
ENST00000373296.7:c.669A>C ENSP00000362393.3:p.Arg223=
ENST00000626498.2:c.*281A>C ENSP00000487527.1:n.*281A>C
ENST00000626877.1:n.548A>C
NM_001109878.1:c.669A>C NP_001103348.1:p.Arg223=
NM_001109879.1:c.309A>C NP_001103349.1:p.Arg103=
NM_001303475.1:c.309A>C NP_001290404.1:p.Arg103=
NM_016954.2:c.669A>C NP_058650.1:p.Arg223=
XM_005262136.2:c.672A>C XP_005262193.1:p.Arg224=
XM_006724657.2:c.672A>C XP_006724720.1:p.Arg224=
XM_011530972.1:c.309A>C XP_011529274.1:p.Arg103=
NM_001109878.2:c.669A>C MANE Select NP_001103348.1:p.Arg223=
NM_001109879.2:c.309A>C NP_001103349.1:p.Arg103=