Canonical Allele Identifier: CA2064655111

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401853G= , CM000674.2:g.114401853G=	GRCh38
NC_000012.11:g.114839658G= , CM000674.1:g.114839658G=	GRCh37
NC_000012.10:g.113324041G=	NCBI36
NG_007373.1:g.11590C= , LRG_670:g.11590C=

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.215C= MANE Select	NP_852259.1:p.Thr72=
ENST00000405440.7:c.215C= MANE Select	ENSP00000384152.3:p.Thr72=
NM_000192.3:c.215C= , LRG_670t1:c.215C=	NP_000183.2:p.Thr72=
NM_080717.2:c.65C=	NP_542448.1:p.Thr22=
NM_080717.3:c.65C=	NP_542448.1:p.Thr22=
NM_080717.4:c.65C=	NP_542448.1:p.Thr22=
NM_181486.2:c.215C=	NP_852259.1:p.Thr72=
ENST00000310346.8:c.215C=	ENSP00000309913.4:p.Thr72=
ENST00000349716.9:c.65C=	ENSP00000337723.5:p.Thr22=
ENST00000405440.6:c.215C=	ENSP00000384152.2:p.Thr72=
ENST00000526441.1:c.215C=	ENSP00000433292.1:p.Thr72=
ENST00000552726.1:n.266C=
XM_017019912.1:c.263C=	XP_016875401.1:p.Thr88=