Canonical Allele Identifier: CA2064648913
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398364A= , CM000674.2:g.114398364A= GRCh38
NC_000012.11:g.114836169A= , CM000674.1:g.114836169A= GRCh37
NC_000012.10:g.113320552A= NCBI36
NG_007373.1:g.15079T= , LRG_670:g.15079T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.510+209T= MANE Select ENSP00000384152.3:n.510+209T=
ENST00000310346.8:c.510+209T= ENSP00000309913.4:n.510+209T=
ENST00000349716.9:c.360+209T= ENSP00000337723.5:n.360+209T=
ENST00000405440.6:c.510+209T= ENSP00000384152.2:n.510+209T=
ENST00000526441.1:c.510+209T= ENSP00000433292.1:n.510+209T=
ENST00000552726.1:n.561+209T=
NM_000192.3:c.510+209T= , LRG_670t1:c.510+209T= NP_000183.2:n.510+209T=
NM_080717.2:c.360+209T= NP_542448.1:n.360+209T=
NM_181486.2:c.510+209T= NP_852259.1:n.510+209T=
XM_017019912.1:c.558+209T= XP_016875401.1:n.558+209T=
NM_080717.3:c.360+209T= NP_542448.1:n.360+209T=
NM_181486.4:c.510+209T= MANE Select NP_852259.1:n.510+209T=
NM_080717.4:c.360+209T= NP_542448.1:n.360+209T=