Canonical Allele Identifier: CA683862286

Gene: TBX5

Linked Data

• dbSNP Id: rs1451296212
• gnomAD v3: 12-114398279-G-C
• gnomAD v4: 12-114398279-G-C
• MyVariant Identifiers: chr12:g.114836084G>C (hg19) ; chr12:g.114398279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398279G>C , CM000674.2:g.114398279G>C	GRCh38
NC_000012.11:g.114836084G>C , CM000674.1:g.114836084G>C	GRCh37
NC_000012.10:g.113320467G>C	NCBI36
NG_007373.1:g.15164C>G , LRG_670:g.15164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+294C>G MANE Select	ENSP00000384152.3:n.510+294C>G
ENST00000310346.8:c.510+294C>G	ENSP00000309913.4:n.510+294C>G
ENST00000349716.9:c.360+294C>G	ENSP00000337723.5:n.360+294C>G
ENST00000405440.6:c.510+294C>G	ENSP00000384152.2:n.510+294C>G
ENST00000526441.1:c.510+294C>G	ENSP00000433292.1:n.510+294C>G
ENST00000552726.1:n.561+294C>G
NM_000192.3:c.510+294C>G , LRG_670t1:c.510+294C>G	NP_000183.2:n.510+294C>G
NM_080717.2:c.360+294C>G	NP_542448.1:n.360+294C>G
NM_181486.2:c.510+294C>G	NP_852259.1:n.510+294C>G
XM_017019912.1:c.558+294C>G	XP_016875401.1:n.558+294C>G
NM_080717.3:c.360+294C>G	NP_542448.1:n.360+294C>G
NM_181486.4:c.510+294C>G MANE Select	NP_852259.1:n.510+294C>G
NM_080717.4:c.360+294C>G	NP_542448.1:n.360+294C>G