Canonical Allele Identifier: CA244132288

Gene: TBX5

Linked Data

• dbSNP Id: rs896460617
• COSMIC: COSM4598695 ; COSM4598696
• MyVariant Identifiers: chr12:g.114841622G>T (hg19) ; chr12:g.114403817G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403817G>T , CM000674.2:g.114403817G>T	GRCh38
NC_000012.11:g.114841622G>T , CM000674.1:g.114841622G>T	GRCh37
NC_000012.10:g.113326005G>T	NCBI36
NG_007373.1:g.9626C>A , LRG_670:g.9626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.82C>A MANE Select	ENSP00000384152.3:p.Pro28Thr
ENST00000310346.8:c.82C>A	ENSP00000309913.4:p.Pro28Thr
ENST00000349716.9:c.-3-1897C>A	ENSP00000337723.5:n.-3-1897C>A
ENST00000405440.6:c.82C>A	ENSP00000384152.2:p.Pro28Thr
ENST00000526441.1:c.82C>A	ENSP00000433292.1:p.Pro28Thr
ENST00000552726.1:n.133C>A
NM_000192.3:c.82C>A , LRG_670t1:c.82C>A	NP_000183.2:p.Pro28Thr
NM_080717.2:c.-3-1897C>A	NP_542448.1:n.-3-1897C>A
NM_181486.2:c.82C>A	NP_852259.1:p.Pro28Thr
XM_017019912.1:c.130C>A	XP_016875401.1:p.Pro44Thr
NM_080717.3:c.-3-1897C>A	NP_542448.1:n.-3-1897C>A
NM_181486.4:c.82C>A MANE Select	NP_852259.1:p.Pro28Thr
NM_080717.4:c.-3-1897C>A	NP_542448.1:n.-3-1897C>A