Canonical Allele Identifier: CA6809612

Gene: TBX5

Linked Data

• dbSNP Id: rs761842850
• ExAC: 12:114836453 C / T
• gnomAD v2: 12-114836453-C-T
• gnomAD v4: 12-114398648-C-T
• MyVariant Identifiers: chr12:g.114836453C>T (hg19) ; chr12:g.114398648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398648C>T , CM000674.2:g.114398648C>T	GRCh38
NC_000012.11:g.114836453C>T , CM000674.1:g.114836453C>T	GRCh37
NC_000012.10:g.113320836C>T	NCBI36
NG_007373.1:g.14795G>A , LRG_670:g.14795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.435G>A MANE Select	ENSP00000384152.3:p.Gly145=
ENST00000310346.8:c.435G>A	ENSP00000309913.4:p.Gly145=
ENST00000349716.9:c.285G>A	ENSP00000337723.5:p.Gly95=
ENST00000405440.6:c.435G>A	ENSP00000384152.2:p.Gly145=
ENST00000526441.1:c.435G>A	ENSP00000433292.1:p.Gly145=
ENST00000552726.1:n.486G>A
NM_000192.3:c.435G>A , LRG_670t1:c.435G>A	NP_000183.2:p.Gly145=
NM_080717.2:c.285G>A	NP_542448.1:p.Gly95=
NM_181486.2:c.435G>A	NP_852259.1:p.Gly145=
XM_017019912.1:c.483G>A	XP_016875401.1:p.Gly161=
NM_080717.3:c.285G>A	NP_542448.1:p.Gly95=
NM_181486.4:c.435G>A MANE Select	NP_852259.1:p.Gly145=
NM_080717.4:c.285G>A	NP_542448.1:p.Gly95=