Canonical Allele Identifier: CA386862236

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398710C>T , CM000674.2:g.114398710C>T	GRCh38
NC_000012.11:g.114836515C>T , CM000674.1:g.114836515C>T	GRCh37
NC_000012.10:g.113320898C>T	NCBI36
NG_007373.1:g.14733G>A , LRG_670:g.14733G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.373G>A MANE Select	NP_852259.1:p.Gly125Ser
ENST00000405440.7:c.373G>A MANE Select	ENSP00000384152.3:p.Gly125Ser
NM_000192.3:c.373G>A , LRG_670t1:c.373G>A	NP_000183.2:p.Gly125Ser
NM_080717.2:c.223G>A	NP_542448.1:p.Gly75Ser
NM_080717.3:c.223G>A	NP_542448.1:p.Gly75Ser
NM_080717.4:c.223G>A	NP_542448.1:p.Gly75Ser
NM_181486.2:c.373G>A	NP_852259.1:p.Gly125Ser
ENST00000310346.8:c.373G>A	ENSP00000309913.4:p.Gly125Ser
ENST00000349716.9:c.223G>A	ENSP00000337723.5:p.Gly75Ser
ENST00000405440.6:c.373G>A	ENSP00000384152.2:p.Gly125Ser
ENST00000526441.1:c.373G>A	ENSP00000433292.1:p.Gly125Ser
ENST00000552726.1:n.424G>A
XM_017019912.1:c.421G>A	XP_016875401.1:p.Gly141Ser