Canonical Allele Identifier: CA517403079

Gene: TBX22

Linked Data

• gnomAD v4: X-80026820-C-G
• MyVariant Identifiers: chrX:g.79282319C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026820C>G , CM000685.2:g.80026820C>G	GRCh38
NC_000023.10:g.79282319C>G , CM000685.1:g.79282319C>G	GRCh37
NC_000023.9:g.79168975C>G	NCBI36
NG_008998.1:g.17065C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.750C>G MANE Select	ENSP00000362393.3:p.Ser250=
ENST00000373294.8:c.750C>G	ENSP00000362390.5:p.Ser250=
ENST00000373296.7:c.750C>G	ENSP00000362393.3:p.Ser250=
ENST00000626498.2:c.*362C>G	ENSP00000487527.1:n.*362C>G
ENST00000626877.1:n.629C>G
NM_001109878.1:c.750C>G	NP_001103348.1:p.Ser250=
NM_001109879.1:c.390C>G	NP_001103349.1:p.Ser130=
NM_001303475.1:c.390C>G	NP_001290404.1:p.Ser130=
NM_016954.2:c.750C>G	NP_058650.1:p.Ser250=
XM_005262136.2:c.753C>G	XP_005262193.1:p.Ser251=
XM_006724657.2:c.753C>G	XP_006724720.1:p.Ser251=
XM_011530972.1:c.390C>G	XP_011529274.1:p.Ser130=
NM_001109878.2:c.750C>G MANE Select	NP_001103348.1:p.Ser250=
NM_001109879.2:c.390C>G	NP_001103349.1:p.Ser130=