Canonical Allele Identifier: CA386861980

Gene: TBX5

Linked Data

• COSMIC: COSM3456506 ; COSM3456507
• MyVariant Identifiers: chr12:g.114836398G>A (hg19) ; chr12:g.114398593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398593G>A , CM000674.2:g.114398593G>A	GRCh38
NC_000012.11:g.114836398G>A , CM000674.1:g.114836398G>A	GRCh37
NC_000012.10:g.113320781G>A	NCBI36
NG_007373.1:g.14850C>T , LRG_670:g.14850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.490C>T MANE Select	ENSP00000384152.3:p.His164Tyr
ENST00000310346.8:c.490C>T	ENSP00000309913.4:p.His164Tyr
ENST00000349716.9:c.340C>T	ENSP00000337723.5:p.His114Tyr
ENST00000405440.6:c.490C>T	ENSP00000384152.2:p.His164Tyr
ENST00000526441.1:c.490C>T	ENSP00000433292.1:p.His164Tyr
ENST00000552726.1:n.541C>T
NM_000192.3:c.490C>T , LRG_670t1:c.490C>T	NP_000183.2:p.His164Tyr
NM_080717.2:c.340C>T	NP_542448.1:p.His114Tyr
NM_181486.2:c.490C>T	NP_852259.1:p.His164Tyr
XM_017019912.1:c.538C>T	XP_016875401.1:p.His180Tyr
NM_080717.3:c.340C>T	NP_542448.1:p.His114Tyr
NM_181486.4:c.490C>T MANE Select	NP_852259.1:p.His164Tyr
NM_080717.4:c.340C>T	NP_542448.1:p.His114Tyr