Canonical Allele Identifier: CA2064649180
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398536G= , CM000674.2:g.114398536G= GRCh38
NC_000012.11:g.114836341G= , CM000674.1:g.114836341G= GRCh37
NC_000012.10:g.113320724G= NCBI36
NG_007373.1:g.14907C= , LRG_670:g.14907C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.510+37C= MANE Select ENSP00000384152.3:n.510+37C=
ENST00000310346.8:c.510+37C= ENSP00000309913.4:n.510+37C=
ENST00000349716.9:c.360+37C= ENSP00000337723.5:n.360+37C=
ENST00000405440.6:c.510+37C= ENSP00000384152.2:n.510+37C=
ENST00000526441.1:c.510+37C= ENSP00000433292.1:n.510+37C=
ENST00000552726.1:n.561+37C=
NM_000192.3:c.510+37C= , LRG_670t1:c.510+37C= NP_000183.2:n.510+37C=
NM_080717.2:c.360+37C= NP_542448.1:n.360+37C=
NM_181486.2:c.510+37C= NP_852259.1:n.510+37C=
XM_017019912.1:c.558+37C= XP_016875401.1:n.558+37C=
NM_080717.3:c.360+37C= NP_542448.1:n.360+37C=
NM_181486.4:c.510+37C= MANE Select NP_852259.1:n.510+37C=
NM_080717.4:c.360+37C= NP_542448.1:n.360+37C=