Canonical Allele Identifier: CA2064649588

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398640C= , CM000674.2:g.114398640C=	GRCh38
NC_000012.11:g.114836445C= , CM000674.1:g.114836445C=	GRCh37
NC_000012.10:g.113320828C=	NCBI36
NG_007373.1:g.14803G= , LRG_670:g.14803G=

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.443G= MANE Select	NP_852259.1:p.Trp148=
ENST00000405440.7:c.443G= MANE Select	ENSP00000384152.3:p.Trp148=
NM_000192.3:c.443G= , LRG_670t1:c.443G=	NP_000183.2:p.Trp148=
NM_080717.2:c.293G=	NP_542448.1:p.Trp98=
NM_080717.3:c.293G=	NP_542448.1:p.Trp98=
NM_080717.4:c.293G=	NP_542448.1:p.Trp98=
NM_181486.2:c.443G=	NP_852259.1:p.Trp148=
ENST00000310346.8:c.443G=	ENSP00000309913.4:p.Trp148=
ENST00000349716.9:c.293G=	ENSP00000337723.5:p.Trp98=
ENST00000405440.6:c.443G=	ENSP00000384152.2:p.Trp148=
ENST00000526441.1:c.443G=	ENSP00000433292.1:p.Trp148=
ENST00000552726.1:n.494G=
XM_017019912.1:c.491G=	XP_016875401.1:p.Trp164=