Canonical Allele Identifier: CA386863261

Gene: TBX5

Linked Data

• ClinVar Variation Id: 1777885
• ClinVar RCV Id: RCV002414531
• dbSNP Id: rs1287994219
• gnomAD v2: 12-114839706-A-T
• gnomAD v4: 12-114401901-A-T
• MyVariant Identifiers: chr12:g.114839706A>T (hg19) ; chr12:g.114401901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401901A>T , CM000674.2:g.114401901A>T	GRCh38
NC_000012.11:g.114839706A>T , CM000674.1:g.114839706A>T	GRCh37
NC_000012.10:g.113324089A>T	NCBI36
NG_007373.1:g.11542T>A , LRG_670:g.11542T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.167T>A MANE Select	ENSP00000384152.3:p.Val56Glu
ENST00000310346.8:c.167T>A	ENSP00000309913.4:p.Val56Glu
ENST00000349716.9:c.17T>A	ENSP00000337723.5:p.Val6Glu
ENST00000405440.6:c.167T>A	ENSP00000384152.2:p.Val56Glu
ENST00000526441.1:c.167T>A	ENSP00000433292.1:p.Val56Glu
ENST00000552726.1:n.218T>A
NM_000192.3:c.167T>A , LRG_670t1:c.167T>A	NP_000183.2:p.Val56Glu
NM_080717.2:c.17T>A	NP_542448.1:p.Val6Glu
NM_181486.2:c.167T>A	NP_852259.1:p.Val56Glu
XM_017019912.1:c.215T>A	XP_016875401.1:p.Val72Glu
NM_080717.3:c.17T>A	NP_542448.1:p.Val6Glu
NM_181486.4:c.167T>A MANE Select	NP_852259.1:p.Val56Glu
NM_080717.4:c.17T>A	NP_542448.1:p.Val6Glu