Canonical Allele Identifier: CA2064654942
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114401793T= , CM000674.2:g.114401793T= GRCh38
NC_000012.11:g.114839598T= , CM000674.1:g.114839598T= GRCh37
NC_000012.10:g.113323981T= NCBI36
NG_007373.1:g.11650A= , LRG_670:g.11650A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.242+33A= MANE Select ENSP00000384152.3:n.242+33A=
ENST00000310346.8:c.242+33A= ENSP00000309913.4:n.242+33A=
ENST00000349716.9:c.92+33A= ENSP00000337723.5:n.92+33A=
ENST00000405440.6:c.242+33A= ENSP00000384152.2:n.242+33A=
ENST00000526441.1:c.242+33A= ENSP00000433292.1:n.242+33A=
ENST00000552726.1:n.293+33A=
NM_000192.3:c.242+33A= , LRG_670t1:c.242+33A= NP_000183.2:n.242+33A=
NM_080717.2:c.92+33A= NP_542448.1:n.92+33A=
NM_181486.2:c.242+33A= NP_852259.1:n.242+33A=
XM_017019912.1:c.290+33A= XP_016875401.1:n.290+33A=
NM_080717.3:c.92+33A= NP_542448.1:n.92+33A=
NM_181486.4:c.242+33A= MANE Select NP_852259.1:n.242+33A=
NM_080717.4:c.92+33A= NP_542448.1:n.92+33A=