Canonical Allele Identifier: CA2064648783

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398295A= , CM000674.2:g.114398295A=	GRCh38
NC_000012.11:g.114836100A= , CM000674.1:g.114836100A=	GRCh37
NC_000012.10:g.113320483A=	NCBI36
NG_007373.1:g.15148T= , LRG_670:g.15148T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+278T= MANE Select	ENSP00000384152.3:n.510+278T=
ENST00000310346.8:c.510+278T=	ENSP00000309913.4:n.510+278T=
ENST00000349716.9:c.360+278T=	ENSP00000337723.5:n.360+278T=
ENST00000405440.6:c.510+278T=	ENSP00000384152.2:n.510+278T=
ENST00000526441.1:c.510+278T=	ENSP00000433292.1:n.510+278T=
ENST00000552726.1:n.561+278T=
NM_000192.3:c.510+278T= , LRG_670t1:c.510+278T=	NP_000183.2:n.510+278T=
NM_080717.2:c.360+278T=	NP_542448.1:n.360+278T=
NM_181486.2:c.510+278T=	NP_852259.1:n.510+278T=
XM_017019912.1:c.558+278T=	XP_016875401.1:n.558+278T=
NM_080717.3:c.360+278T=	NP_542448.1:n.360+278T=
NM_181486.4:c.510+278T= MANE Select	NP_852259.1:n.510+278T=
NM_080717.4:c.360+278T=	NP_542448.1:n.360+278T=