Canonical Allele Identifier: CA2064643629

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114394793T= , CM000674.2:g.114394793T=	GRCh38
NC_000012.11:g.114832598T= , CM000674.1:g.114832598T=	GRCh37
NC_000012.10:g.113316981T=	NCBI36
NG_007373.1:g.18650A= , LRG_670:g.18650A=

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.611A= MANE Select	NP_852259.1:p.His204=
ENST00000405440.7:c.611A= MANE Select	ENSP00000384152.3:p.His204=
NM_000192.3:c.611A= , LRG_670t1:c.611A=	NP_000183.2:p.His204=
NM_080717.2:c.461A=	NP_542448.1:p.His154=
NM_080717.3:c.461A=	NP_542448.1:p.His154=
NM_080717.4:c.461A=	NP_542448.1:p.His154=
NM_181486.2:c.611A=	NP_852259.1:p.His204=
ENST00000310346.8:c.611A=	ENSP00000309913.4:p.His204=
ENST00000349716.9:c.461A=	ENSP00000337723.5:p.His154=
ENST00000405440.6:c.611A=	ENSP00000384152.2:p.His204=
ENST00000526441.1:c.611A=	ENSP00000433292.1:p.His204=
XM_017019912.1:c.659A=	XP_016875401.1:p.His220=