Canonical Allele Identifier: CA150573
Gene: TBX6 HGNC NCBI

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
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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
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