Canonical Allele Identifier: CA2064658855
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114403788C= , CM000674.2:g.114403788C= GRCh38
NC_000012.11:g.114841593C= , CM000674.1:g.114841593C= GRCh37
NC_000012.10:g.113325976C= NCBI36
NG_007373.1:g.9655G= , LRG_670:g.9655G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.111G= MANE Select ENSP00000384152.3:p.Lys37=
ENST00000310346.8:c.111G= ENSP00000309913.4:p.Lys37=
ENST00000349716.9:c.-3-1868G= ENSP00000337723.5:n.-3-1868G=
ENST00000405440.6:c.111G= ENSP00000384152.2:p.Lys37=
ENST00000526441.1:c.111G= ENSP00000433292.1:p.Lys37=
ENST00000552726.1:n.162G=
NM_000192.3:c.111G= , LRG_670t1:c.111G= NP_000183.2:p.Lys37=
NM_080717.2:c.-3-1868G= NP_542448.1:n.-3-1868G=
NM_181486.2:c.111G= NP_852259.1:p.Lys37=
XM_017019912.1:c.159G= XP_016875401.1:p.Lys53=
NM_080717.3:c.-3-1868G= NP_542448.1:n.-3-1868G=
NM_181486.4:c.111G= MANE Select NP_852259.1:p.Lys37=
NM_080717.4:c.-3-1868G= NP_542448.1:n.-3-1868G=