Canonical Allele Identifier: CA413740824

Gene: TBX22

Linked Data

• gnomAD v4: X-80026801-A-G
• MyVariant Identifiers: chrX:g.79282300A>G (hg19) ; chrX:g.80026801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026801A>G , CM000685.2:g.80026801A>G	GRCh38
NC_000023.10:g.79282300A>G , CM000685.1:g.79282300A>G	GRCh37
NC_000023.9:g.79168956A>G	NCBI36
NG_008998.1:g.17046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.731A>G MANE Select	ENSP00000362393.3:p.Glu244Gly
ENST00000373294.8:c.731A>G	ENSP00000362390.5:p.Glu244Gly
ENST00000373296.7:c.731A>G	ENSP00000362393.3:p.Glu244Gly
ENST00000626498.2:c.*343A>G	ENSP00000487527.1:n.*343A>G
ENST00000626877.1:n.610A>G
NM_001109878.1:c.731A>G	NP_001103348.1:p.Glu244Gly
NM_001109879.1:c.371A>G	NP_001103349.1:p.Glu124Gly
NM_001303475.1:c.371A>G	NP_001290404.1:p.Glu124Gly
NM_016954.2:c.731A>G	NP_058650.1:p.Glu244Gly
XM_005262136.2:c.734A>G	XP_005262193.1:p.Glu245Gly
XM_006724657.2:c.734A>G	XP_006724720.1:p.Glu245Gly
XM_011530972.1:c.371A>G	XP_011529274.1:p.Glu124Gly
NM_001109878.2:c.731A>G MANE Select	NP_001103348.1:p.Glu244Gly
NM_001109879.2:c.371A>G	NP_001103349.1:p.Glu124Gly