Canonical Allele Identifier: CA386859834

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385557A>C , CM000674.2:g.114385557A>C	GRCh38
NC_000012.11:g.114823362A>C , CM000674.1:g.114823362A>C	GRCh37
NC_000012.10:g.113307745A>C	NCBI36
NG_007373.1:g.27886T>G , LRG_670:g.27886T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.674T>G MANE Select	NP_852259.1:p.Leu225Ter
ENST00000405440.7:c.674T>G MANE Select	ENSP00000384152.3:p.Leu225Ter
NM_000192.3:c.674T>G , LRG_670t1:c.674T>G	NP_000183.2:p.Leu225Ter
NM_080717.2:c.524T>G	NP_542448.1:p.Leu175Ter
NM_080717.3:c.524T>G	NP_542448.1:p.Leu175Ter
NM_080717.4:c.524T>G	NP_542448.1:p.Leu175Ter
NM_181486.2:c.674T>G	NP_852259.1:p.Leu225Ter
ENST00000310346.8:c.674T>G	ENSP00000309913.4:p.Leu225Ter
ENST00000349716.9:c.524T>G	ENSP00000337723.5:p.Leu175Ter
ENST00000405440.6:c.674T>G	ENSP00000384152.2:p.Leu225Ter
ENST00000526441.1:c.674T>G	ENSP00000433292.1:p.Leu225Ter
XM_017019912.1:c.722T>G	XP_016875401.1:p.Leu241Ter