Canonical Allele Identifier: CA150573

Gene: TBX6

Linked Data

• ClinVar Variation Id: 100633
• ClinVar RCV Id: RCV000087033 ; RCV002269823
• dbSNP Id: rs587777113
• MyVariant Identifiers: chr16:g.30097546T>A (hg19) ; chr16:g.30086225T>A (hg38)
• PubMed: PMID:20503311 ; PMID:23335591

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086225T>A , CM000678.2:g.30086225T>A	GRCh38
NC_000016.9:g.30097546T>A , CM000678.1:g.30097546T>A	GRCh37
NC_000016.8:g.30005047T>A	NCBI36
NG_023283.1:g.10660A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.1311A>T MANE Select	ENSP00000378650.2:p.Ter437Cys
ENST00000279386.6:c.1311A>T	ENSP00000279386.2:p.Ter437Cys
ENST00000395224.6:c.1311A>T	ENSP00000378650.2:p.Ter437Cys
ENST00000567664.5:c.*445A>T	ENSP00000460425.1:n.*445A>T
ENST00000627355.2:c.1311A>T	ENSP00000485762.1:p.Ter437Cys
NM_004608.3:c.1311A>T	NP_004599.2:p.Ter437Cys
XM_005255523.1:c.1311A>T	XP_005255580.1:p.Ter437Cys
XM_011545926.1:c.1311A>T	XP_011544228.1:p.Ter437Cys
XM_005255523.2:c.1311A>T	XP_005255580.1:p.Ter437Cys
XM_011545926.3:c.1311A>T	XP_011544228.1:p.Ter437Cys
XM_017023614.1:c.1311A>T	XP_016879103.1:p.Ter437Cys
NM_004608.4:c.1311A>T MANE Select	NP_004599.2:p.Ter437Cys