Canonical Allele Identifier: CA386859744

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385537A>G , CM000674.2:g.114385537A>G	GRCh38
NC_000012.11:g.114823342A>G , CM000674.1:g.114823342A>G	GRCh37
NC_000012.10:g.113307725A>G	NCBI36
NG_007373.1:g.27906T>C , LRG_670:g.27906T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.694T>C MANE Select	NP_852259.1:p.Phe232Leu
ENST00000405440.7:c.694T>C MANE Select	ENSP00000384152.3:p.Phe232Leu
NM_000192.3:c.694T>C , LRG_670t1:c.694T>C	NP_000183.2:p.Phe232Leu
NM_080717.2:c.544T>C	NP_542448.1:p.Phe182Leu
NM_080717.3:c.544T>C	NP_542448.1:p.Phe182Leu
NM_080717.4:c.544T>C	NP_542448.1:p.Phe182Leu
NM_181486.2:c.694T>C	NP_852259.1:p.Phe232Leu
ENST00000310346.8:c.694T>C	ENSP00000309913.4:p.Phe232Leu
ENST00000349716.9:c.544T>C	ENSP00000337723.5:p.Phe182Leu
ENST00000405440.6:c.694T>C	ENSP00000384152.2:p.Phe232Leu
ENST00000526441.1:c.694T>C	ENSP00000433292.1:p.Phe232Leu
XM_017019912.1:c.742T>C	XP_016875401.1:p.Phe248Leu