Canonical Allele Identifier: CA413739501
Gene: TBX22 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.80022435G>C
GRCh37 chrX:g.79277934G>C
Revel Score:
ENST00000373296 (MANE Select) 0.110
ENST00000373294 0.110
gnomAD v2:
X:79277934 G / C
gnomAD v3:
X:80022435 G / C
gnomAD v4:
chrX-80022435-G-C
Joint Max Group AF 0.0000067 (NFE)
Exomes Max Group AF 0.0000061 (NFE)
ClinVar RCV:
RCV002793873
ClinVar Variation:
2268491
dbSNP:
104894945
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80022435G>C , CM000685.2:g.80022435G>C GRCh38
NC_000023.10:g.79277934G>C , CM000685.1:g.79277934G>C GRCh37
NC_000023.9:g.79164590G>C NCBI36
NG_008998.1:g.12680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.166G>C MANE Select ENSP00000362393.3:p.Glu56Gln
ENST00000373294.8:c.166G>C ENSP00000362390.5:p.Glu56Gln
ENST00000373296.7:c.166G>C ENSP00000362393.3:p.Glu56Gln
ENST00000476373.1:n.287G>C
ENST00000626498.2:c.166G>C ENSP00000487527.1:p.Glu56Gln
NM_001109878.1:c.166G>C NP_001103348.1:p.Glu56Gln
NM_001109879.1:c.-191G>C NP_001103349.1:n.-191G>C
NM_016954.2:c.166G>C NP_058650.1:p.Glu56Gln
XM_005262136.2:c.166G>C XP_005262193.1:p.Glu56Gln
XM_006724657.2:c.166G>C XP_006724720.1:p.Glu56Gln
XM_011530972.1:c.-873G>C XP_011529274.1:n.-873G>C
NM_001109878.2:c.166G>C MANE Select NP_001103348.1:p.Glu56Gln
NM_001109879.2:c.-191G>C NP_001103349.1:n.-191G>C
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