Canonical Allele Identifier: CA8001937

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089208C>T , CM000678.2:g.30089208C>T	GRCh38
NC_000016.9:g.30100529C>T , CM000678.1:g.30100529C>T	GRCh37
NC_000016.8:g.30008030C>T	NCBI36
NG_023283.1:g.7677G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.356G>A MANE Select	NP_004599.2:p.Arg119His
ENST00000395224.7:c.356G>A MANE Select	ENSP00000378650.2:p.Arg119His
NM_004608.3:c.356G>A	NP_004599.2:p.Arg119His
ENST00000279386.6:c.356G>A	ENSP00000279386.2:p.Arg119His
ENST00000395224.6:c.356G>A	ENSP00000378650.2:p.Arg119His
ENST00000553607.1:c.356G>A	ENSP00000461223.1:p.Arg119His
ENST00000567664.5:c.356G>A	ENSP00000460425.1:p.Arg119His
ENST00000627355.2:c.356G>A	ENSP00000485762.1:p.Arg119His
XM_005255523.1:c.356G>A	XP_005255580.1:p.Arg119His
XM_005255523.2:c.356G>A	XP_005255580.1:p.Arg119His
XM_011545926.1:c.356G>A	XP_011544228.1:p.Arg119His
XM_011545926.3:c.356G>A	XP_011544228.1:p.Arg119His
XM_017023614.1:c.356G>A	XP_016879103.1:p.Arg119His
XR_950840.1:n.1100G>A
XR_950840.3:n.1090G>A