Canonical Allele Identifier: CA413740741

Gene: TBX22

Linked Data

• dbSNP Id: rs1923995636
• gnomAD v3: X-80026763-C-A
• gnomAD v4: X-80026763-C-A
• MyVariant Identifiers: chrX:g.79282262C>A (hg19) ; chrX:g.80026763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026763C>A , CM000685.2:g.80026763C>A	GRCh38
NC_000023.10:g.79282262C>A , CM000685.1:g.79282262C>A	GRCh37
NC_000023.9:g.79168918C>A	NCBI36
NG_008998.1:g.17008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.693C>A MANE Select	ENSP00000362393.3:p.Ser231Arg
ENST00000373294.8:c.693C>A	ENSP00000362390.5:p.Ser231Arg
ENST00000373296.7:c.693C>A	ENSP00000362393.3:p.Ser231Arg
ENST00000626498.2:c.*305C>A	ENSP00000487527.1:n.*305C>A
ENST00000626877.1:n.572C>A
NM_001109878.1:c.693C>A	NP_001103348.1:p.Ser231Arg
NM_001109879.1:c.333C>A	NP_001103349.1:p.Ser111Arg
NM_001303475.1:c.333C>A	NP_001290404.1:p.Ser111Arg
NM_016954.2:c.693C>A	NP_058650.1:p.Ser231Arg
XM_005262136.2:c.696C>A	XP_005262193.1:p.Ser232Arg
XM_006724657.2:c.696C>A	XP_006724720.1:p.Ser232Arg
XM_011530972.1:c.333C>A	XP_011529274.1:p.Ser111Arg
NM_001109878.2:c.693C>A MANE Select	NP_001103348.1:p.Ser231Arg
NM_001109879.2:c.333C>A	NP_001103349.1:p.Ser111Arg