Canonical Allele Identifier: CA2064634397
Community Standard Title: NM_181486.4(TBX5):c.983-1532C=
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114357638G= , CM000674.2:g.114357638G= GRCh38
NC_000012.11:g.114795443G= , CM000674.1:g.114795443G= GRCh37
NC_000012.10:g.113279826G= NCBI36
NG_007373.1:g.55805C= , LRG_670:g.55805C=

Transcript Alleles

HGVS Amino-acid Change
NM_181486.4:c.983-1532C= MANE Select NP_852259.1:n.983-1532C=
ENST00000405440.7:c.983-1532C= MANE Select ENSP00000384152.3:n.983-1532C=
NM_000192.3:c.983-1532C= , LRG_670t1:c.983-1532C= NP_000183.2:n.983-1532C=
NM_080717.2:c.833-1532C= NP_542448.1:n.833-1532C=
NM_080717.3:c.833-1532C= NP_542448.1:n.833-1532C=
NM_080717.4:c.833-1532C= NP_542448.1:n.833-1532C=
NM_181486.2:c.983-1532C= NP_852259.1:n.983-1532C=
ENST00000310346.8:c.983-1532C= ENSP00000309913.4:n.983-1532C=
ENST00000349716.9:c.833-1532C= ENSP00000337723.5:n.833-1532C=
ENST00000405440.6:c.983-1532C= ENSP00000384152.2:n.983-1532C=
XM_017019912.1:c.1031-1532C= XP_016875401.1:n.1031-1532C=