Canonical Allele Identifier: CA413740650

Gene: TBX22

Linked Data

• gnomAD v4: X-80026722-C-T
• MyVariant Identifiers: chrX:g.79282221C>T (hg19) ; chrX:g.80026722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026722C>T , CM000685.2:g.80026722C>T	GRCh38
NC_000023.10:g.79282221C>T , CM000685.1:g.79282221C>T	GRCh37
NC_000023.9:g.79168877C>T	NCBI36
NG_008998.1:g.16967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.652C>T MANE Select	ENSP00000362393.3:p.His218Tyr
ENST00000373294.8:c.652C>T	ENSP00000362390.5:p.His218Tyr
ENST00000373296.7:c.652C>T	ENSP00000362393.3:p.His218Tyr
ENST00000626498.2:c.*264C>T	ENSP00000487527.1:n.*264C>T
ENST00000626877.1:n.531C>T
NM_001109878.1:c.652C>T	NP_001103348.1:p.His218Tyr
NM_001109879.1:c.292C>T	NP_001103349.1:p.His98Tyr
NM_001303475.1:c.292C>T	NP_001290404.1:p.His98Tyr
NM_016954.2:c.652C>T	NP_058650.1:p.His218Tyr
XM_005262136.2:c.655C>T	XP_005262193.1:p.His219Tyr
XM_006724657.2:c.655C>T	XP_006724720.1:p.His219Tyr
XM_011530972.1:c.292C>T	XP_011529274.1:p.His98Tyr
NM_001109878.2:c.652C>T MANE Select	NP_001103348.1:p.His218Tyr
NM_001109879.2:c.292C>T	NP_001103349.1:p.His98Tyr