Canonical Allele Identifier: CA8001726

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086697T>G , CM000678.2:g.30086697T>G	GRCh38
NC_000016.9:g.30098018T>G , CM000678.1:g.30098018T>G	GRCh37
NC_000016.8:g.30005519T>G	NCBI36
NG_023283.1:g.10188A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.914-2A>C MANE Select	NP_004599.2:n.914-2A>C
ENST00000395224.7:c.914-2A>C MANE Select	ENSP00000378650.2:n.914-2A>C
NM_004608.3:c.914-2A>C	NP_004599.2:n.914-2A>C
ENST00000279386.6:c.914-2A>C	ENSP00000279386.2:n.914-2A>C
ENST00000395224.6:c.914-2A>C	ENSP00000378650.2:n.914-2A>C
ENST00000567664.5:c.*48-2A>C	ENSP00000460425.1:n.*48-2A>C
ENST00000627355.2:c.914-2A>C	ENSP00000485762.1:n.914-2A>C
XM_005255523.1:c.914-2A>C	XP_005255580.1:n.914-2A>C
XM_005255523.2:c.914-2A>C	XP_005255580.1:n.914-2A>C
XM_011545926.1:c.914-2A>C	XP_011544228.1:n.914-2A>C
XM_011545926.3:c.914-2A>C	XP_011544228.1:n.914-2A>C
XM_017023614.1:c.914-2A>C	XP_016879103.1:n.914-2A>C
XR_950840.1:n.1756-2A>C
XR_950840.3:n.1746-2A>C