Canonical Allele Identifier: CA481920817

Gene: TBX5

Linked Data

• ClinVar Variation Id: 1779355
• ClinVar RCV Id: RCV002401549
• MyVariant Identifiers: chr12:g.114839699G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401894G>T , CM000674.2:g.114401894G>T	GRCh38
NC_000012.11:g.114839699G>T , CM000674.1:g.114839699G>T	GRCh37
NC_000012.10:g.113324082G>T	NCBI36
NG_007373.1:g.11549C>A , LRG_670:g.11549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.174C>A MANE Select	ENSP00000384152.3:p.Leu58=
ENST00000310346.8:c.174C>A	ENSP00000309913.4:p.Leu58=
ENST00000349716.9:c.24C>A	ENSP00000337723.5:p.Leu8=
ENST00000405440.6:c.174C>A	ENSP00000384152.2:p.Leu58=
ENST00000526441.1:c.174C>A	ENSP00000433292.1:p.Leu58=
ENST00000552726.1:n.225C>A
NM_000192.3:c.174C>A , LRG_670t1:c.174C>A	NP_000183.2:p.Leu58=
NM_080717.2:c.24C>A	NP_542448.1:p.Leu8=
NM_181486.2:c.174C>A	NP_852259.1:p.Leu58=
XM_017019912.1:c.222C>A	XP_016875401.1:p.Leu74=
NM_080717.3:c.24C>A	NP_542448.1:p.Leu8=
NM_181486.4:c.174C>A MANE Select	NP_852259.1:p.Leu58=
NM_080717.4:c.24C>A	NP_542448.1:p.Leu8=