Canonical Allele Identifier: CA413740397

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79281191C>A (hg19) ; chrX:g.80025692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80025692C>A , CM000685.2:g.80025692C>A	GRCh38
NC_000023.10:g.79281191C>A , CM000685.1:g.79281191C>A	GRCh37
NC_000023.9:g.79167847C>A	NCBI36
NG_008998.1:g.15937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.548C>A MANE Select	ENSP00000362393.3:p.Pro183His
ENST00000373294.8:c.548C>A	ENSP00000362390.5:p.Pro183His
ENST00000373296.7:c.548C>A	ENSP00000362393.3:p.Pro183His
ENST00000626498.2:c.*160C>A	ENSP00000487527.1:n.*160C>A
ENST00000626877.1:n.427C>A
NM_001109878.1:c.548C>A	NP_001103348.1:p.Pro183His
NM_001109879.1:c.188C>A	NP_001103349.1:p.Pro63His
NM_001303475.1:c.188C>A	NP_001290404.1:p.Pro63His
NM_016954.2:c.548C>A	NP_058650.1:p.Pro183His
XM_005262136.2:c.551C>A	XP_005262193.1:p.Pro184His
XM_006724657.2:c.551C>A	XP_006724720.1:p.Pro184His
XM_011530972.1:c.188C>A	XP_011529274.1:p.Pro63His
NM_001109878.2:c.548C>A MANE Select	NP_001103348.1:p.Pro183His
NM_001109879.2:c.188C>A	NP_001103349.1:p.Pro63His