Canonical Allele Identifier: CA244132190

Gene: TBX5

Linked Data

• ClinVar Variation Id: 1746818
• ClinVar RCV Id: RCV002346778
• dbSNP Id: rs903933027
• MyVariant Identifiers: chr12:g.114841585G>C (hg19) ; chr12:g.114403780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403780G>C , CM000674.2:g.114403780G>C	GRCh38
NC_000012.11:g.114841585G>C , CM000674.1:g.114841585G>C	GRCh37
NC_000012.10:g.113325968G>C	NCBI36
NG_007373.1:g.9663C>G , LRG_670:g.9663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.119C>G MANE Select	ENSP00000384152.3:p.Ser40Trp
ENST00000310346.8:c.119C>G	ENSP00000309913.4:p.Ser40Trp
ENST00000349716.9:c.-3-1860C>G	ENSP00000337723.5:n.-3-1860C>G
ENST00000405440.6:c.119C>G	ENSP00000384152.2:p.Ser40Trp
ENST00000526441.1:c.119C>G	ENSP00000433292.1:p.Ser40Trp
ENST00000552726.1:n.170C>G
NM_000192.3:c.119C>G , LRG_670t1:c.119C>G	NP_000183.2:p.Ser40Trp
NM_080717.2:c.-3-1860C>G	NP_542448.1:n.-3-1860C>G
NM_181486.2:c.119C>G	NP_852259.1:p.Ser40Trp
XM_017019912.1:c.167C>G	XP_016875401.1:p.Ser56Trp
NM_080717.3:c.-3-1860C>G	NP_542448.1:n.-3-1860C>G
NM_181486.4:c.119C>G MANE Select	NP_852259.1:p.Ser40Trp
NM_080717.4:c.-3-1860C>G	NP_542448.1:n.-3-1860C>G