Canonical Allele Identifier: CA386859822

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385554T>C , CM000674.2:g.114385554T>C	GRCh38
NC_000012.11:g.114823359T>C , CM000674.1:g.114823359T>C	GRCh37
NC_000012.10:g.113307742T>C	NCBI36
NG_007373.1:g.27889A>G , LRG_670:g.27889A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.677A>G MANE Select	NP_852259.1:p.Lys226Arg
ENST00000405440.7:c.677A>G MANE Select	ENSP00000384152.3:p.Lys226Arg
NM_000192.3:c.677A>G , LRG_670t1:c.677A>G	NP_000183.2:p.Lys226Arg
NM_080717.2:c.527A>G	NP_542448.1:p.Lys176Arg
NM_080717.3:c.527A>G	NP_542448.1:p.Lys176Arg
NM_080717.4:c.527A>G	NP_542448.1:p.Lys176Arg
NM_181486.2:c.677A>G	NP_852259.1:p.Lys226Arg
ENST00000310346.8:c.677A>G	ENSP00000309913.4:p.Lys226Arg
ENST00000349716.9:c.527A>G	ENSP00000337723.5:p.Lys176Arg
ENST00000405440.6:c.677A>G	ENSP00000384152.2:p.Lys226Arg
ENST00000526441.1:c.677A>G	ENSP00000433292.1:p.Lys226Arg
XM_017019912.1:c.725A>G	XP_016875401.1:p.Lys242Arg