Canonical Allele Identifier: CA386861965

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114836391T>A (hg19) ; chr12:g.114398586T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398586T>A , CM000674.2:g.114398586T>A	GRCh38
NC_000012.11:g.114836391T>A , CM000674.1:g.114836391T>A	GRCh37
NC_000012.10:g.113320774T>A	NCBI36
NG_007373.1:g.14857A>T , LRG_670:g.14857A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.497A>T MANE Select	ENSP00000384152.3:p.Asp166Val
ENST00000310346.8:c.497A>T	ENSP00000309913.4:p.Asp166Val
ENST00000349716.9:c.347A>T	ENSP00000337723.5:p.Asp116Val
ENST00000405440.6:c.497A>T	ENSP00000384152.2:p.Asp166Val
ENST00000526441.1:c.497A>T	ENSP00000433292.1:p.Asp166Val
ENST00000552726.1:n.548A>T
NM_000192.3:c.497A>T , LRG_670t1:c.497A>T	NP_000183.2:p.Asp166Val
NM_080717.2:c.347A>T	NP_542448.1:p.Asp116Val
NM_181486.2:c.497A>T	NP_852259.1:p.Asp166Val
XM_017019912.1:c.545A>T	XP_016875401.1:p.Asp182Val
NM_080717.3:c.347A>T	NP_542448.1:p.Asp116Val
NM_181486.4:c.497A>T MANE Select	NP_852259.1:p.Asp166Val
NM_080717.4:c.347A>T	NP_542448.1:p.Asp116Val