Canonical Allele Identifier: CA2064633280
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114355255G= , CM000674.2:g.114355255G= GRCh38
NC_000012.11:g.114793060G= , CM000674.1:g.114793060G= GRCh37
NC_000012.10:g.113277443G= NCBI36
NG_007373.1:g.58188C= , LRG_670:g.58188C=

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*277C= MANE Select ENSP00000384152.3:n.*277C=
ENST00000310346.8:c.*277C= ENSP00000309913.4:n.*277C=
ENST00000349716.9:c.*277C= ENSP00000337723.5:n.*277C=
NM_000192.3:c.*277C= , LRG_670t1:c.*277C= NP_000183.2:n.*277C=
NM_080717.2:c.*277C= NP_542448.1:n.*277C=
NM_181486.2:c.*277C= NP_852259.1:n.*277C=
XM_017019912.1:c.*277C= XP_016875401.1:n.*277C=
NM_080717.3:c.*277C= NP_542448.1:n.*277C=
NM_181486.4:c.*277C= MANE Select NP_852259.1:n.*277C=
NM_080717.4:c.*277C= NP_542448.1:n.*277C=