Canonical Allele Identifier: CA2064633661

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114356011G= , CM000674.2:g.114356011G=	GRCh38
NC_000012.11:g.114793816G= , CM000674.1:g.114793816G=	GRCh37
NC_000012.10:g.113278199G=	NCBI36
NG_007373.1:g.57432C= , LRG_670:g.57432C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1078C= MANE Select	ENSP00000384152.3:p.Gln360=
ENST00000310346.8:c.1078C=	ENSP00000309913.4:p.Gln360=
ENST00000349716.9:c.928C=	ENSP00000337723.5:p.Gln310=
ENST00000405440.6:c.1078C=	ENSP00000384152.2:p.Gln360=
NM_000192.3:c.1078C= , LRG_670t1:c.1078C=	NP_000183.2:p.Gln360=
NM_080717.2:c.928C=	NP_542448.1:p.Gln310=
NM_181486.2:c.1078C=	NP_852259.1:p.Gln360=
XM_017019912.1:c.1126C=	XP_016875401.1:p.Gln376=
NM_080717.3:c.928C=	NP_542448.1:p.Gln310=
NM_181486.4:c.1078C= MANE Select	NP_852259.1:p.Gln360=
NM_080717.4:c.928C=	NP_542448.1:p.Gln310=