Canonical Allele Identifier: CA386863530

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114841616T>G (hg19) ; chr12:g.114403811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403811T>G , CM000674.2:g.114403811T>G	GRCh38
NC_000012.11:g.114841616T>G , CM000674.1:g.114841616T>G	GRCh37
NC_000012.10:g.113325999T>G	NCBI36
NG_007373.1:g.9632A>C , LRG_670:g.9632A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.88A>C MANE Select	ENSP00000384152.3:p.Ser30Arg
ENST00000310346.8:c.88A>C	ENSP00000309913.4:p.Ser30Arg
ENST00000349716.9:c.-3-1891A>C	ENSP00000337723.5:n.-3-1891A>C
ENST00000405440.6:c.88A>C	ENSP00000384152.2:p.Ser30Arg
ENST00000526441.1:c.88A>C	ENSP00000433292.1:p.Ser30Arg
ENST00000552726.1:n.139A>C
NM_000192.3:c.88A>C , LRG_670t1:c.88A>C	NP_000183.2:p.Ser30Arg
NM_080717.2:c.-3-1891A>C	NP_542448.1:n.-3-1891A>C
NM_181486.2:c.88A>C	NP_852259.1:p.Ser30Arg
XM_017019912.1:c.136A>C	XP_016875401.1:p.Ser46Arg
NM_080717.3:c.-3-1891A>C	NP_542448.1:n.-3-1891A>C
NM_181486.4:c.88A>C MANE Select	NP_852259.1:p.Ser30Arg
NM_080717.4:c.-3-1891A>C	NP_542448.1:n.-3-1891A>C