Canonical Allele Identifier: CA413740811

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79282294C>A (hg19) ; chrX:g.80026795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026795C>A , CM000685.2:g.80026795C>A	GRCh38
NC_000023.10:g.79282294C>A , CM000685.1:g.79282294C>A	GRCh37
NC_000023.9:g.79168950C>A	NCBI36
NG_008998.1:g.17040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.725C>A MANE Select	ENSP00000362393.3:p.Pro242His
ENST00000373294.8:c.725C>A	ENSP00000362390.5:p.Pro242His
ENST00000373296.7:c.725C>A	ENSP00000362393.3:p.Pro242His
ENST00000626498.2:c.*337C>A	ENSP00000487527.1:n.*337C>A
ENST00000626877.1:n.604C>A
NM_001109878.1:c.725C>A	NP_001103348.1:p.Pro242His
NM_001109879.1:c.365C>A	NP_001103349.1:p.Pro122His
NM_001303475.1:c.365C>A	NP_001290404.1:p.Pro122His
NM_016954.2:c.725C>A	NP_058650.1:p.Pro242His
XM_005262136.2:c.728C>A	XP_005262193.1:p.Pro243His
XM_006724657.2:c.728C>A	XP_006724720.1:p.Pro243His
XM_011530972.1:c.365C>A	XP_011529274.1:p.Pro122His
NM_001109878.2:c.725C>A MANE Select	NP_001103348.1:p.Pro242His
NM_001109879.2:c.365C>A	NP_001103349.1:p.Pro122His