Canonical Allele Identifier: CA2216423012

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30088967G= , CM000678.2:g.30088967G=	GRCh38
NC_000016.9:g.30100288G= , CM000678.1:g.30100288G=	GRCh37
NC_000016.8:g.30007789G=	NCBI36
NG_023283.1:g.7918C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.597C= MANE Select	ENSP00000378650.2:p.Asn199=
ENST00000279386.6:c.597C=	ENSP00000279386.2:p.Asn199=
ENST00000395224.6:c.597C=	ENSP00000378650.2:p.Asn199=
ENST00000553607.1:c.597C=	ENSP00000461223.1:p.Asn199=
ENST00000567664.5:c.597C=	ENSP00000460425.1:p.Asn199=
ENST00000627355.2:c.597C=	ENSP00000485762.1:p.Asn199=
NM_004608.3:c.597C=	NP_004599.2:p.Asn199=
XM_005255523.1:c.597C=	XP_005255580.1:p.Asn199=
XM_011545926.1:c.597C=	XP_011544228.1:p.Asn199=
XR_950840.1:n.1341C=
XM_005255523.2:c.597C=	XP_005255580.1:p.Asn199=
XM_011545926.3:c.597C=	XP_011544228.1:p.Asn199=
XM_017023614.1:c.597C=	XP_016879103.1:p.Asn199=
XR_950840.3:n.1331C=
NM_004608.4:c.597C= MANE Select	NP_004599.2:p.Asn199=