Canonical Allele Identifier: CA386925133

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114793489G>T (hg19) ; chr12:g.114355684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355684G>T , CM000674.2:g.114355684G>T	GRCh38
NC_000012.11:g.114793489G>T , CM000674.1:g.114793489G>T	GRCh37
NC_000012.10:g.113277872G>T	NCBI36
NG_007373.1:g.57759C>A , LRG_670:g.57759C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1405C>A MANE Select	ENSP00000384152.3:p.Gln469Lys
ENST00000310346.8:c.1405C>A	ENSP00000309913.4:p.Gln469Lys
ENST00000349716.9:c.1255C>A	ENSP00000337723.5:p.Gln419Lys
ENST00000405440.6:c.1405C>A	ENSP00000384152.2:p.Gln469Lys
NM_000192.3:c.1405C>A , LRG_670t1:c.1405C>A	NP_000183.2:p.Gln469Lys
NM_080717.2:c.1255C>A	NP_542448.1:p.Gln419Lys
NM_181486.2:c.1405C>A	NP_852259.1:p.Gln469Lys
XM_017019912.1:c.1453C>A	XP_016875401.1:p.Gln485Lys
NM_080717.3:c.1255C>A	NP_542448.1:p.Gln419Lys
NM_181486.4:c.1405C>A MANE Select	NP_852259.1:p.Gln469Lys
NM_080717.4:c.1255C>A	NP_542448.1:p.Gln419Lys