Canonical Allele Identifier: CA6809502

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114366378C>T , CM000674.2:g.114366378C>T	GRCh38
NC_000012.11:g.114804183C>T , CM000674.1:g.114804183C>T	GRCh37
NC_000012.10:g.113288566C>T	NCBI36
NG_007373.1:g.47065G>A , LRG_670:g.47065G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.769G>A MANE Select	NP_852259.1:p.Val257Met
ENST00000405440.7:c.769G>A MANE Select	ENSP00000384152.3:p.Val257Met
NM_000192.3:c.769G>A , LRG_670t1:c.769G>A	NP_000183.2:p.Val257Met
NM_080717.2:c.619G>A	NP_542448.1:p.Val207Met
NM_080717.3:c.619G>A	NP_542448.1:p.Val207Met
NM_080717.4:c.619G>A	NP_542448.1:p.Val207Met
NM_181486.2:c.769G>A	NP_852259.1:p.Val257Met
ENST00000310346.8:c.769G>A	ENSP00000309913.4:p.Val257Met
ENST00000349716.9:c.619G>A	ENSP00000337723.5:p.Val207Met
ENST00000405440.6:c.769G>A	ENSP00000384152.2:p.Val257Met
ENST00000526441.1:c.769G>A	ENSP00000433292.1:p.Val257Met
XM_017019912.1:c.817G>A	XP_016875401.1:p.Val273Met