Canonical Allele Identifier: CA2064648432

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385561G= , CM000674.2:g.114385561G=	GRCh38
NC_000012.11:g.114823366G= , CM000674.1:g.114823366G=	GRCh37
NC_000012.10:g.113307749G=	NCBI36
NG_007373.1:g.27882C= , LRG_670:g.27882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.670C= MANE Select	ENSP00000384152.3:p.Gln224=
ENST00000310346.8:c.670C=	ENSP00000309913.4:p.Gln224=
ENST00000349716.9:c.520C=	ENSP00000337723.5:p.Gln174=
ENST00000405440.6:c.670C=	ENSP00000384152.2:p.Gln224=
ENST00000526441.1:c.670C=	ENSP00000433292.1:p.Gln224=
NM_000192.3:c.670C= , LRG_670t1:c.670C=	NP_000183.2:p.Gln224=
NM_080717.2:c.520C=	NP_542448.1:p.Gln174=
NM_181486.2:c.670C=	NP_852259.1:p.Gln224=
XM_017019912.1:c.718C=	XP_016875401.1:p.Gln240=
NM_080717.3:c.520C=	NP_542448.1:p.Gln174=
NM_181486.4:c.670C= MANE Select	NP_852259.1:p.Gln224=
NM_080717.4:c.520C=	NP_542448.1:p.Gln174=