Canonical Allele Identifier: CA2064649361

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398591G= , CM000674.2:g.114398591G=	GRCh38
NC_000012.11:g.114836396G= , CM000674.1:g.114836396G=	GRCh37
NC_000012.10:g.113320779G=	NCBI36
NG_007373.1:g.14852C= , LRG_670:g.14852C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.492C= MANE Select	ENSP00000384152.3:p.His164=
ENST00000310346.8:c.492C=	ENSP00000309913.4:p.His164=
ENST00000349716.9:c.342C=	ENSP00000337723.5:p.His114=
ENST00000405440.6:c.492C=	ENSP00000384152.2:p.His164=
ENST00000526441.1:c.492C=	ENSP00000433292.1:p.His164=
ENST00000552726.1:n.543C=
NM_000192.3:c.492C= , LRG_670t1:c.492C=	NP_000183.2:p.His164=
NM_080717.2:c.342C=	NP_542448.1:p.His114=
NM_181486.2:c.492C=	NP_852259.1:p.His164=
XM_017019912.1:c.540C=	XP_016875401.1:p.His180=
NM_080717.3:c.342C=	NP_542448.1:p.His114=
NM_181486.4:c.492C= MANE Select	NP_852259.1:p.His164=
NM_080717.4:c.342C=	NP_542448.1:p.His114=