Canonical Allele Identifier: CA386863014

Gene: TBX5

Linked Data

• gnomAD v4: 12-114401845-T-C
• MyVariant Identifiers: chr12:g.114839650T>C (hg19) ; chr12:g.114401845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401845T>C , CM000674.2:g.114401845T>C	GRCh38
NC_000012.11:g.114839650T>C , CM000674.1:g.114839650T>C	GRCh37
NC_000012.10:g.113324033T>C	NCBI36
NG_007373.1:g.11598A>G , LRG_670:g.11598A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.223A>G MANE Select	ENSP00000384152.3:p.Ile75Val
ENST00000310346.8:c.223A>G	ENSP00000309913.4:p.Ile75Val
ENST00000349716.9:c.73A>G	ENSP00000337723.5:p.Ile25Val
ENST00000405440.6:c.223A>G	ENSP00000384152.2:p.Ile75Val
ENST00000526441.1:c.223A>G	ENSP00000433292.1:p.Ile75Val
ENST00000552726.1:n.274A>G
NM_000192.3:c.223A>G , LRG_670t1:c.223A>G	NP_000183.2:p.Ile75Val
NM_080717.2:c.73A>G	NP_542448.1:p.Ile25Val
NM_181486.2:c.223A>G	NP_852259.1:p.Ile75Val
XM_017019912.1:c.271A>G	XP_016875401.1:p.Ile91Val
NM_080717.3:c.73A>G	NP_542448.1:p.Ile25Val
NM_181486.4:c.223A>G MANE Select	NP_852259.1:p.Ile75Val
NM_080717.4:c.73A>G	NP_542448.1:p.Ile25Val