Canonical Allele Identifier: CA2064634398
Gene: TBX5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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