Canonical Allele Identifier: CA2530925797

Gene: TBX5

Linked Data

• ClinVar Variation Id: 3002944
• ClinVar RCV Id: RCV003860535
• gnomAD v4: 12-114399500-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114399500C>A , CM000674.2:g.114399500C>A	GRCh38
NC_000012.11:g.114837305C>A , CM000674.1:g.114837305C>A	GRCh37
NC_000012.10:g.113321688C>A	NCBI36
NG_007373.1:g.13943G>T , LRG_670:g.13943G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.362+13G>T MANE Select	ENSP00000384152.3:n.362+13G>T
ENST00000310346.8:c.362+13G>T	ENSP00000309913.4:n.362+13G>T
ENST00000349716.9:c.212+13G>T	ENSP00000337723.5:n.212+13G>T
ENST00000405440.6:c.362+13G>T	ENSP00000384152.2:n.362+13G>T
ENST00000526441.1:c.362+13G>T	ENSP00000433292.1:n.362+13G>T
ENST00000552726.1:n.413+13G>T
NM_000192.3:c.362+13G>T , LRG_670t1:c.362+13G>T	NP_000183.2:n.362+13G>T
NM_080717.2:c.212+13G>T	NP_542448.1:n.212+13G>T
NM_181486.2:c.362+13G>T	NP_852259.1:n.362+13G>T
XM_017019912.1:c.410+13G>T	XP_016875401.1:n.410+13G>T
NM_080717.3:c.212+13G>T	NP_542448.1:n.212+13G>T
NM_181486.4:c.362+13G>T MANE Select	NP_852259.1:n.362+13G>T
NM_080717.4:c.212+13G>T	NP_542448.1:n.212+13G>T