Canonical Allele Identifier: CA386859733

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385535A>C , CM000674.2:g.114385535A>C	GRCh38
NC_000012.11:g.114823340A>C , CM000674.1:g.114823340A>C	GRCh37
NC_000012.10:g.113307723A>C	NCBI36
NG_007373.1:g.27908T>G , LRG_670:g.27908T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.696T>G MANE Select	NP_852259.1:p.Phe232Leu
ENST00000405440.7:c.696T>G MANE Select	ENSP00000384152.3:p.Phe232Leu
NM_000192.3:c.696T>G , LRG_670t1:c.696T>G	NP_000183.2:p.Phe232Leu
NM_080717.2:c.546T>G	NP_542448.1:p.Phe182Leu
NM_080717.3:c.546T>G	NP_542448.1:p.Phe182Leu
NM_080717.4:c.546T>G	NP_542448.1:p.Phe182Leu
NM_181486.2:c.696T>G	NP_852259.1:p.Phe232Leu
ENST00000310346.8:c.696T>G	ENSP00000309913.4:p.Phe232Leu
ENST00000349716.9:c.546T>G	ENSP00000337723.5:p.Phe182Leu
ENST00000405440.6:c.696T>G	ENSP00000384152.2:p.Phe232Leu
ENST00000526441.1:c.696T>G	ENSP00000433292.1:p.Phe232Leu
XM_017019912.1:c.744T>G	XP_016875401.1:p.Phe248Leu