Canonical Allele Identifier: CA2621125102

Gene: TBX5

Linked Data

• gnomAD v4: 12-114398549-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398549G>C , CM000674.2:g.114398549G>C	GRCh38
NC_000012.11:g.114836354G>C , CM000674.1:g.114836354G>C	GRCh37
NC_000012.10:g.113320737G>C	NCBI36
NG_007373.1:g.14894C>G , LRG_670:g.14894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+24C>G MANE Select	ENSP00000384152.3:n.510+24C>G
ENST00000310346.8:c.510+24C>G	ENSP00000309913.4:n.510+24C>G
ENST00000349716.9:c.360+24C>G	ENSP00000337723.5:n.360+24C>G
ENST00000405440.6:c.510+24C>G	ENSP00000384152.2:n.510+24C>G
ENST00000526441.1:c.510+24C>G	ENSP00000433292.1:n.510+24C>G
ENST00000552726.1:n.561+24C>G
NM_000192.3:c.510+24C>G , LRG_670t1:c.510+24C>G	NP_000183.2:n.510+24C>G
NM_080717.2:c.360+24C>G	NP_542448.1:n.360+24C>G
NM_181486.2:c.510+24C>G	NP_852259.1:n.510+24C>G
XM_017019912.1:c.558+24C>G	XP_016875401.1:n.558+24C>G
NM_080717.3:c.360+24C>G	NP_542448.1:n.360+24C>G
NM_181486.4:c.510+24C>G MANE Select	NP_852259.1:n.510+24C>G
NM_080717.4:c.360+24C>G	NP_542448.1:n.360+24C>G