Canonical Allele Identifier: CA2064654984
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114401813C= , CM000674.2:g.114401813C= GRCh38
NC_000012.11:g.114839618C= , CM000674.1:g.114839618C= GRCh37
NC_000012.10:g.113324001C= NCBI36
NG_007373.1:g.11630G= , LRG_670:g.11630G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.242+13G= MANE Select ENSP00000384152.3:n.242+13G=
ENST00000310346.8:c.242+13G= ENSP00000309913.4:n.242+13G=
ENST00000349716.9:c.92+13G= ENSP00000337723.5:n.92+13G=
ENST00000405440.6:c.242+13G= ENSP00000384152.2:n.242+13G=
ENST00000526441.1:c.242+13G= ENSP00000433292.1:n.242+13G=
ENST00000552726.1:n.293+13G=
NM_000192.3:c.242+13G= , LRG_670t1:c.242+13G= NP_000183.2:n.242+13G=
NM_080717.2:c.92+13G= NP_542448.1:n.92+13G=
NM_181486.2:c.242+13G= NP_852259.1:n.242+13G=
XM_017019912.1:c.290+13G= XP_016875401.1:n.290+13G=
NM_080717.3:c.92+13G= NP_542448.1:n.92+13G=
NM_181486.4:c.242+13G= MANE Select NP_852259.1:n.242+13G=
NM_080717.4:c.92+13G= NP_542448.1:n.92+13G=