Canonical Allele Identifier: CA386859862

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385563G>A , CM000674.2:g.114385563G>A	GRCh38
NC_000012.11:g.114823368G>A , CM000674.1:g.114823368G>A	GRCh37
NC_000012.10:g.113307751G>A	NCBI36
NG_007373.1:g.27880C>T , LRG_670:g.27880C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.668C>T MANE Select	NP_852259.1:p.Thr223Met
ENST00000405440.7:c.668C>T MANE Select	ENSP00000384152.3:p.Thr223Met
NM_000192.3:c.668C>T , LRG_670t1:c.668C>T	NP_000183.2:p.Thr223Met
NM_080717.2:c.518C>T	NP_542448.1:p.Thr173Met
NM_080717.3:c.518C>T	NP_542448.1:p.Thr173Met
NM_080717.4:c.518C>T	NP_542448.1:p.Thr173Met
NM_181486.2:c.668C>T	NP_852259.1:p.Thr223Met
ENST00000310346.8:c.668C>T	ENSP00000309913.4:p.Thr223Met
ENST00000349716.9:c.518C>T	ENSP00000337723.5:p.Thr173Met
ENST00000405440.6:c.668C>T	ENSP00000384152.2:p.Thr223Met
ENST00000526441.1:c.668C>T	ENSP00000433292.1:p.Thr223Met
XM_017019912.1:c.716C>T	XP_016875401.1:p.Thr239Met