Canonical Allele Identifier: CA386863160

Gene: TBX5

Linked Data

• ClinVar Variation Id: 928756
• ClinVar RCV Id: RCV001193147 ; RCV001268738
• dbSNP Id: rs1555226581
• MyVariant Identifiers: chr12:g.114839681C>T (hg19) ; chr12:g.114401876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401876C>T , CM000674.2:g.114401876C>T	GRCh38
NC_000012.11:g.114839681C>T , CM000674.1:g.114839681C>T	GRCh37
NC_000012.10:g.113324064C>T	NCBI36
NG_007373.1:g.11567G>A , LRG_670:g.11567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.192G>A MANE Select	ENSP00000384152.3:p.Trp64Ter
ENST00000310346.8:c.192G>A	ENSP00000309913.4:p.Trp64Ter
ENST00000349716.9:c.42G>A	ENSP00000337723.5:p.Trp14Ter
ENST00000405440.6:c.192G>A	ENSP00000384152.2:p.Trp64Ter
ENST00000526441.1:c.192G>A	ENSP00000433292.1:p.Trp64Ter
ENST00000552726.1:n.243G>A
NM_000192.3:c.192G>A , LRG_670t1:c.192G>A	NP_000183.2:p.Trp64Ter
NM_080717.2:c.42G>A	NP_542448.1:p.Trp14Ter
NM_181486.2:c.192G>A	NP_852259.1:p.Trp64Ter
XM_017019912.1:c.240G>A	XP_016875401.1:p.Trp80Ter
NM_080717.3:c.42G>A	NP_542448.1:p.Trp14Ter
NM_181486.4:c.192G>A MANE Select	NP_852259.1:p.Trp64Ter
NM_080717.4:c.42G>A	NP_542448.1:p.Trp14Ter