Canonical Allele Identifier: CA254295

Gene: TBX5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401863C>A , CM000674.2:g.114401863C>A	GRCh38
NC_000012.11:g.114839668C>A , CM000674.1:g.114839668C>A	GRCh37
NC_000012.10:g.113324051C>A	NCBI36
NG_007373.1:g.11580G>T , LRG_670:g.11580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.205G>T MANE Select	ENSP00000384152.3:p.Glu69Ter
ENST00000310346.8:c.205G>T	ENSP00000309913.4:p.Glu69Ter
ENST00000349716.9:c.55G>T	ENSP00000337723.5:p.Glu19Ter
ENST00000405440.6:c.205G>T	ENSP00000384152.2:p.Glu69Ter
ENST00000526441.1:c.205G>T	ENSP00000433292.1:p.Glu69Ter
ENST00000552726.1:n.256G>T
NM_000192.3:c.205G>T , LRG_670t1:c.205G>T	NP_000183.2:p.Glu69Ter
NM_080717.2:c.55G>T	NP_542448.1:p.Glu19Ter
NM_181486.2:c.205G>T	NP_852259.1:p.Glu69Ter
XM_017019912.1:c.253G>T	XP_016875401.1:p.Glu85Ter
NM_080717.3:c.55G>T	NP_542448.1:p.Glu19Ter
NM_181486.4:c.205G>T MANE Select	NP_852259.1:p.Glu69Ter
NM_080717.4:c.55G>T	NP_542448.1:p.Glu19Ter