Canonical Allele Identifier: CA386926303

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114366204G>A , CM000674.2:g.114366204G>A	GRCh38
NC_000012.11:g.114804009G>A , CM000674.1:g.114804009G>A	GRCh37
NC_000012.10:g.113288392G>A	NCBI36
NG_007373.1:g.47239C>T , LRG_670:g.47239C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.943C>T MANE Select	NP_852259.1:p.Gln315Ter
ENST00000405440.7:c.943C>T MANE Select	ENSP00000384152.3:p.Gln315Ter
NM_000192.3:c.943C>T , LRG_670t1:c.943C>T	NP_000183.2:p.Gln315Ter
NM_080717.2:c.793C>T	NP_542448.1:p.Gln265Ter
NM_080717.3:c.793C>T	NP_542448.1:p.Gln265Ter
NM_080717.4:c.793C>T	NP_542448.1:p.Gln265Ter
NM_181486.2:c.943C>T	NP_852259.1:p.Gln315Ter
ENST00000310346.8:c.943C>T	ENSP00000309913.4:p.Gln315Ter
ENST00000349716.9:c.793C>T	ENSP00000337723.5:p.Gln265Ter
ENST00000405440.6:c.943C>T	ENSP00000384152.2:p.Gln315Ter
ENST00000526441.1:c.943C>T	ENSP00000433292.1:p.Gln315Ter
XM_017019912.1:c.991C>T	XP_016875401.1:p.Gln331Ter