Canonical Allele Identifier: CA6809406

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355973C>T , CM000674.2:g.114355973C>T	GRCh38
NC_000012.11:g.114793778C>T , CM000674.1:g.114793778C>T	GRCh37
NC_000012.10:g.113278161C>T	NCBI36
NG_007373.1:g.57470G>A , LRG_670:g.57470G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.1116G>A MANE Select	NP_852259.1:p.Ser372=
ENST00000405440.7:c.1116G>A MANE Select	ENSP00000384152.3:p.Ser372=
NM_000192.3:c.1116G>A , LRG_670t1:c.1116G>A	NP_000183.2:p.Ser372=
NM_080717.2:c.966G>A	NP_542448.1:p.Ser322=
NM_080717.3:c.966G>A	NP_542448.1:p.Ser322=
NM_080717.4:c.966G>A	NP_542448.1:p.Ser322=
NM_181486.2:c.1116G>A	NP_852259.1:p.Ser372=
ENST00000310346.8:c.1116G>A	ENSP00000309913.4:p.Ser372=
ENST00000349716.9:c.966G>A	ENSP00000337723.5:p.Ser322=
ENST00000405440.6:c.1116G>A	ENSP00000384152.2:p.Ser372=
XM_017019912.1:c.1164G>A	XP_016875401.1:p.Ser388=