Canonical Allele Identifier: CA386861564

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114394867G>T , CM000674.2:g.114394867G>T	GRCh38
NC_000012.11:g.114832672G>T , CM000674.1:g.114832672G>T	GRCh37
NC_000012.10:g.113317055G>T	NCBI36
NG_007373.1:g.18576C>A , LRG_670:g.18576C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.537C>A MANE Select	NP_852259.1:p.Tyr179Ter
ENST00000405440.7:c.537C>A MANE Select	ENSP00000384152.3:p.Tyr179Ter
NM_000192.3:c.537C>A , LRG_670t1:c.537C>A	NP_000183.2:p.Tyr179Ter
NM_080717.2:c.387C>A	NP_542448.1:p.Tyr129Ter
NM_080717.3:c.387C>A	NP_542448.1:p.Tyr129Ter
NM_080717.4:c.387C>A	NP_542448.1:p.Tyr129Ter
NM_181486.2:c.537C>A	NP_852259.1:p.Tyr179Ter
ENST00000310346.8:c.537C>A	ENSP00000309913.4:p.Tyr179Ter
ENST00000349716.9:c.387C>A	ENSP00000337723.5:p.Tyr129Ter
ENST00000405440.6:c.537C>A	ENSP00000384152.2:p.Tyr179Ter
ENST00000526441.1:c.537C>A	ENSP00000433292.1:p.Tyr179Ter
XM_017019912.1:c.585C>A	XP_016875401.1:p.Tyr195Ter