Canonical Allele Identifier: CA2064655211

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401895A= , CM000674.2:g.114401895A=	GRCh38
NC_000012.11:g.114839700A= , CM000674.1:g.114839700A=	GRCh37
NC_000012.10:g.113324083A=	NCBI36
NG_007373.1:g.11548T= , LRG_670:g.11548T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.173T= MANE Select	ENSP00000384152.3:p.Leu58=
ENST00000310346.8:c.173T=	ENSP00000309913.4:p.Leu58=
ENST00000349716.9:c.23T=	ENSP00000337723.5:p.Leu8=
ENST00000405440.6:c.173T=	ENSP00000384152.2:p.Leu58=
ENST00000526441.1:c.173T=	ENSP00000433292.1:p.Leu58=
ENST00000552726.1:n.224T=
NM_000192.3:c.173T= , LRG_670t1:c.173T=	NP_000183.2:p.Leu58=
NM_080717.2:c.23T=	NP_542448.1:p.Leu8=
NM_181486.2:c.173T=	NP_852259.1:p.Leu58=
XM_017019912.1:c.221T=	XP_016875401.1:p.Leu74=
NM_080717.3:c.23T=	NP_542448.1:p.Leu8=
NM_181486.4:c.173T= MANE Select	NP_852259.1:p.Leu58=
NM_080717.4:c.23T=	NP_542448.1:p.Leu8=