Canonical Allele Identifier: CA2216423057

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089017C= , CM000678.2:g.30089017C=	GRCh38
NC_000016.9:g.30100338C= , CM000678.1:g.30100338C=	GRCh37
NC_000016.8:g.30007839C=	NCBI36
NG_023283.1:g.7868G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.547G= MANE Select	ENSP00000378650.2:p.Ala183=
ENST00000279386.6:c.547G=	ENSP00000279386.2:p.Ala183=
ENST00000395224.6:c.547G=	ENSP00000378650.2:p.Ala183=
ENST00000553607.1:c.547G=	ENSP00000461223.1:p.Ala183=
ENST00000567664.5:c.547G=	ENSP00000460425.1:p.Ala183=
ENST00000627355.2:c.547G=	ENSP00000485762.1:p.Ala183=
NM_004608.3:c.547G=	NP_004599.2:p.Ala183=
XM_005255523.1:c.547G=	XP_005255580.1:p.Ala183=
XM_011545926.1:c.547G=	XP_011544228.1:p.Ala183=
XR_950840.1:n.1291G=
XM_005255523.2:c.547G=	XP_005255580.1:p.Ala183=
XM_011545926.3:c.547G=	XP_011544228.1:p.Ala183=
XM_017023614.1:c.547G=	XP_016879103.1:p.Ala183=
XR_950840.3:n.1281G=
NM_004608.4:c.547G= MANE Select	NP_004599.2:p.Ala183=