Canonical Allele Identifier: CA386862861

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114399613T>A , CM000674.2:g.114399613T>A	GRCh38
NC_000012.11:g.114837418T>A , CM000674.1:g.114837418T>A	GRCh37
NC_000012.10:g.113321801T>A	NCBI36
NG_007373.1:g.13830A>T , LRG_670:g.13830A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.262A>T MANE Select	NP_852259.1:p.Lys88Ter
ENST00000405440.7:c.262A>T MANE Select	ENSP00000384152.3:p.Lys88Ter
NM_000192.3:c.262A>T , LRG_670t1:c.262A>T	NP_000183.2:p.Lys88Ter
NM_080717.2:c.112A>T	NP_542448.1:p.Lys38Ter
NM_080717.3:c.112A>T	NP_542448.1:p.Lys38Ter
NM_080717.4:c.112A>T	NP_542448.1:p.Lys38Ter
NM_181486.2:c.262A>T	NP_852259.1:p.Lys88Ter
ENST00000310346.8:c.262A>T	ENSP00000309913.4:p.Lys88Ter
ENST00000349716.9:c.112A>T	ENSP00000337723.5:p.Lys38Ter
ENST00000405440.6:c.262A>T	ENSP00000384152.2:p.Lys88Ter
ENST00000526441.1:c.262A>T	ENSP00000433292.1:p.Lys88Ter
ENST00000552726.1:n.313A>T
XM_017019912.1:c.310A>T	XP_016875401.1:p.Lys104Ter