Canonical Allele Identifier: CA2064655222

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401899A= , CM000674.2:g.114401899A=	GRCh38
NC_000012.11:g.114839704A= , CM000674.1:g.114839704A=	GRCh37
NC_000012.10:g.113324087A=	NCBI36
NG_007373.1:g.11544T= , LRG_670:g.11544T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.169T= MANE Select	ENSP00000384152.3:p.Phe57=
ENST00000310346.8:c.169T=	ENSP00000309913.4:p.Phe57=
ENST00000349716.9:c.19T=	ENSP00000337723.5:p.Phe7=
ENST00000405440.6:c.169T=	ENSP00000384152.2:p.Phe57=
ENST00000526441.1:c.169T=	ENSP00000433292.1:p.Phe57=
ENST00000552726.1:n.220T=
NM_000192.3:c.169T= , LRG_670t1:c.169T=	NP_000183.2:p.Phe57=
NM_080717.2:c.19T=	NP_542448.1:p.Phe7=
NM_181486.2:c.169T=	NP_852259.1:p.Phe57=
XM_017019912.1:c.217T=	XP_016875401.1:p.Phe73=
NM_080717.3:c.19T=	NP_542448.1:p.Phe7=
NM_181486.4:c.169T= MANE Select	NP_852259.1:p.Phe57=
NM_080717.4:c.19T=	NP_542448.1:p.Phe7=