Canonical Allele Identifier: CA395512889

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086388G>T , CM000678.2:g.30086388G>T	GRCh38
NC_000016.9:g.30097709G>T , CM000678.1:g.30097709G>T	GRCh37
NC_000016.8:g.30005210G>T	NCBI36
NG_023283.1:g.10497C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.1148C>A MANE Select	NP_004599.2:p.Ser383Ter
ENST00000395224.7:c.1148C>A MANE Select	ENSP00000378650.2:p.Ser383Ter
NM_004608.3:c.1148C>A	NP_004599.2:p.Ser383Ter
ENST00000279386.6:c.1148C>A	ENSP00000279386.2:p.Ser383Ter
ENST00000395224.6:c.1148C>A	ENSP00000378650.2:p.Ser383Ter
ENST00000567664.5:c.*282C>A	ENSP00000460425.1:n.*282C>A
ENST00000627355.2:c.1148C>A	ENSP00000485762.1:p.Ser383Ter
XM_005255523.1:c.1148C>A	XP_005255580.1:p.Ser383Ter
XM_005255523.2:c.1148C>A	XP_005255580.1:p.Ser383Ter
XM_011545926.1:c.1148C>A	XP_011544228.1:p.Ser383Ter
XM_011545926.3:c.1148C>A	XP_011544228.1:p.Ser383Ter
XM_017023614.1:c.1148C>A	XP_016879103.1:p.Ser383Ter