Canonical Allele Identifier: CA386861973

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114836394A>C (hg19) ; chr12:g.114398589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398589A>C , CM000674.2:g.114398589A>C	GRCh38
NC_000012.11:g.114836394A>C , CM000674.1:g.114836394A>C	GRCh37
NC_000012.10:g.113320777A>C	NCBI36
NG_007373.1:g.14854T>G , LRG_670:g.14854T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.494T>G MANE Select	ENSP00000384152.3:p.Leu165Arg
ENST00000310346.8:c.494T>G	ENSP00000309913.4:p.Leu165Arg
ENST00000349716.9:c.344T>G	ENSP00000337723.5:p.Leu115Arg
ENST00000405440.6:c.494T>G	ENSP00000384152.2:p.Leu165Arg
ENST00000526441.1:c.494T>G	ENSP00000433292.1:p.Leu165Arg
ENST00000552726.1:n.545T>G
NM_000192.3:c.494T>G , LRG_670t1:c.494T>G	NP_000183.2:p.Leu165Arg
NM_080717.2:c.344T>G	NP_542448.1:p.Leu115Arg
NM_181486.2:c.494T>G	NP_852259.1:p.Leu165Arg
XM_017019912.1:c.542T>G	XP_016875401.1:p.Leu181Arg
NM_080717.3:c.344T>G	NP_542448.1:p.Leu115Arg
NM_181486.4:c.494T>G MANE Select	NP_852259.1:p.Leu165Arg
NM_080717.4:c.344T>G	NP_542448.1:p.Leu115Arg