Canonical Allele Identifier: CA413740863

Gene: TBX22

Linked Data

• gnomAD v4: X-80026818-T-C
• MyVariant Identifiers: chrX:g.79282317T>C (hg19) ; chrX:g.80026818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026818T>C , CM000685.2:g.80026818T>C	GRCh38
NC_000023.10:g.79282317T>C , CM000685.1:g.79282317T>C	GRCh37
NC_000023.9:g.79168973T>C	NCBI36
NG_008998.1:g.17063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.748T>C MANE Select	ENSP00000362393.3:p.Ser250Pro
ENST00000373294.8:c.748T>C	ENSP00000362390.5:p.Ser250Pro
ENST00000373296.7:c.748T>C	ENSP00000362393.3:p.Ser250Pro
ENST00000626498.2:c.*360T>C	ENSP00000487527.1:n.*360T>C
ENST00000626877.1:n.627T>C
NM_001109878.1:c.748T>C	NP_001103348.1:p.Ser250Pro
NM_001109879.1:c.388T>C	NP_001103349.1:p.Ser130Pro
NM_001303475.1:c.388T>C	NP_001290404.1:p.Ser130Pro
NM_016954.2:c.748T>C	NP_058650.1:p.Ser250Pro
XM_005262136.2:c.751T>C	XP_005262193.1:p.Ser251Pro
XM_006724657.2:c.751T>C	XP_006724720.1:p.Ser251Pro
XM_011530972.1:c.388T>C	XP_011529274.1:p.Ser130Pro
NM_001109878.2:c.748T>C MANE Select	NP_001103348.1:p.Ser250Pro
NM_001109879.2:c.388T>C	NP_001103349.1:p.Ser130Pro