Canonical Allele Identifier: CA386863226

Gene: TBX5

Linked Data

• gnomAD v4: 12-114401892-T-C
• MyVariant Identifiers: chr12:g.114839697T>C (hg19) ; chr12:g.114401892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401892T>C , CM000674.2:g.114401892T>C	GRCh38
NC_000012.11:g.114839697T>C , CM000674.1:g.114839697T>C	GRCh37
NC_000012.10:g.113324080T>C	NCBI36
NG_007373.1:g.11551A>G , LRG_670:g.11551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.176A>G MANE Select	ENSP00000384152.3:p.His59Arg
ENST00000310346.8:c.176A>G	ENSP00000309913.4:p.His59Arg
ENST00000349716.9:c.26A>G	ENSP00000337723.5:p.His9Arg
ENST00000405440.6:c.176A>G	ENSP00000384152.2:p.His59Arg
ENST00000526441.1:c.176A>G	ENSP00000433292.1:p.His59Arg
ENST00000552726.1:n.227A>G
NM_000192.3:c.176A>G , LRG_670t1:c.176A>G	NP_000183.2:p.His59Arg
NM_080717.2:c.26A>G	NP_542448.1:p.His9Arg
NM_181486.2:c.176A>G	NP_852259.1:p.His59Arg
XM_017019912.1:c.224A>G	XP_016875401.1:p.His75Arg
NM_080717.3:c.26A>G	NP_542448.1:p.His9Arg
NM_181486.4:c.176A>G MANE Select	NP_852259.1:p.His59Arg
NM_080717.4:c.26A>G	NP_542448.1:p.His9Arg