Canonical Allele Identifier: CA2064649757

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398679A= , CM000674.2:g.114398679A=	GRCh38
NC_000012.11:g.114836484A= , CM000674.1:g.114836484A=	GRCh37
NC_000012.10:g.113320867A=	NCBI36
NG_007373.1:g.14764T= , LRG_670:g.14764T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.404T= MANE Select	ENSP00000384152.3:p.Leu135=
ENST00000310346.8:c.404T=	ENSP00000309913.4:p.Leu135=
ENST00000349716.9:c.254T=	ENSP00000337723.5:p.Leu85=
ENST00000405440.6:c.404T=	ENSP00000384152.2:p.Leu135=
ENST00000526441.1:c.404T=	ENSP00000433292.1:p.Leu135=
ENST00000552726.1:n.455T=
NM_000192.3:c.404T= , LRG_670t1:c.404T=	NP_000183.2:p.Leu135=
NM_080717.2:c.254T=	NP_542448.1:p.Leu85=
NM_181486.2:c.404T=	NP_852259.1:p.Leu135=
XM_017019912.1:c.452T=	XP_016875401.1:p.Leu151=
NM_080717.3:c.254T=	NP_542448.1:p.Leu85=
NM_181486.4:c.404T= MANE Select	NP_852259.1:p.Leu135=
NM_080717.4:c.254T=	NP_542448.1:p.Leu85=