Canonical Allele Identifier: CA2064649025

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398442G= , CM000674.2:g.114398442G=	GRCh38
NC_000012.11:g.114836247G= , CM000674.1:g.114836247G=	GRCh37
NC_000012.10:g.113320630G=	NCBI36
NG_007373.1:g.15001C= , LRG_670:g.15001C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+131C= MANE Select	ENSP00000384152.3:n.510+131C=
ENST00000310346.8:c.510+131C=	ENSP00000309913.4:n.510+131C=
ENST00000349716.9:c.360+131C=	ENSP00000337723.5:n.360+131C=
ENST00000405440.6:c.510+131C=	ENSP00000384152.2:n.510+131C=
ENST00000526441.1:c.510+131C=	ENSP00000433292.1:n.510+131C=
ENST00000552726.1:n.561+131C=
NM_000192.3:c.510+131C= , LRG_670t1:c.510+131C=	NP_000183.2:n.510+131C=
NM_080717.2:c.360+131C=	NP_542448.1:n.360+131C=
NM_181486.2:c.510+131C=	NP_852259.1:n.510+131C=
XM_017019912.1:c.558+131C=	XP_016875401.1:n.558+131C=
NM_080717.3:c.360+131C=	NP_542448.1:n.360+131C=
NM_181486.4:c.510+131C= MANE Select	NP_852259.1:n.510+131C=
NM_080717.4:c.360+131C=	NP_542448.1:n.360+131C=