Canonical Allele Identifier: CA395511956

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086227A>G , CM000678.2:g.30086227A>G	GRCh38
NC_000016.9:g.30097548A>G , CM000678.1:g.30097548A>G	GRCh37
NC_000016.8:g.30005049A>G	NCBI36
NG_023283.1:g.10658T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.1309T>C MANE Select	NP_004599.2:p.Ter437Arg
ENST00000395224.7:c.1309T>C MANE Select	ENSP00000378650.2:p.Ter437Arg
NM_004608.3:c.1309T>C	NP_004599.2:p.Ter437Arg
ENST00000279386.6:c.1309T>C	ENSP00000279386.2:p.Ter437Arg
ENST00000395224.6:c.1309T>C	ENSP00000378650.2:p.Ter437Arg
ENST00000567664.5:c.*443T>C	ENSP00000460425.1:n.*443T>C
ENST00000627355.2:c.1309T>C	ENSP00000485762.1:p.Ter437Arg
XM_005255523.1:c.1309T>C	XP_005255580.1:p.Ter437Arg
XM_005255523.2:c.1309T>C	XP_005255580.1:p.Ter437Arg
XM_011545926.1:c.1309T>C	XP_011544228.1:p.Ter437Arg
XM_011545926.3:c.1309T>C	XP_011544228.1:p.Ter437Arg
XM_017023614.1:c.1309T>C	XP_016879103.1:p.Ter437Arg