Canonical Allele Identifier: CA2064658719

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403754G= , CM000674.2:g.114403754G=	GRCh38
NC_000012.11:g.114841559G= , CM000674.1:g.114841559G=	GRCh37
NC_000012.10:g.113325942G=	NCBI36
NG_007373.1:g.9689C= , LRG_670:g.9689C=

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.145C= MANE Select	NP_852259.1:p.Gln49=
ENST00000405440.7:c.145C= MANE Select	ENSP00000384152.3:p.Gln49=
NM_000192.3:c.145C= , LRG_670t1:c.145C=	NP_000183.2:p.Gln49=
NM_080717.2:c.-3-1834C=	NP_542448.1:n.-3-1834C=
NM_080717.3:c.-3-1834C=	NP_542448.1:n.-3-1834C=
NM_080717.4:c.-3-1834C=	NP_542448.1:n.-3-1834C=
NM_181486.2:c.145C=	NP_852259.1:p.Gln49=
ENST00000310346.8:c.145C=	ENSP00000309913.4:p.Gln49=
ENST00000349716.9:c.-3-1834C=	ENSP00000337723.5:n.-3-1834C=
ENST00000405440.6:c.145C=	ENSP00000384152.2:p.Gln49=
ENST00000526441.1:c.145C=	ENSP00000433292.1:p.Gln49=
ENST00000552726.1:n.196C=
XM_017019912.1:c.193C=	XP_016875401.1:p.Gln65=