Canonical Allele Identifier: CA2184414890

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181389C= , CM000677.2:g.67181389C=	GRCh38
NC_000015.9:g.67473727C= , CM000677.1:g.67473727C=	GRCh37
NC_000015.8:g.65260781C=	NCBI36
NG_011990.1:g.120533C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.222C=	ENSP00000454165.2:p.Phe74=
ENST00000558739.2:c.492C=	ENSP00000453684.2:p.Phe164=
ENST00000558827.2:c.222C=	ENSP00000452767.2:p.Phe74=
ENST00000559460.6:c.492C=	ENSP00000453082.2:p.Phe164=
ENST00000560424.2:c.807C=	ENSP00000455540.2:p.Phe269=
ENST00000327367.9:c.807C= MANE Select	ENSP00000332973.4:p.Phe269=
ENST00000679624.1:c.492C=	ENSP00000505445.1:p.Phe164=
ENST00000680689.1:n.510C=
ENST00000681239.1:c.492C=	ENSP00000505641.1:p.Phe164=
ENST00000327367.8:c.807C=	ENSP00000332973.4:p.Phe269=
ENST00000439724.7:c.675C=	ENSP00000401133.3:p.Phe225=
ENST00000537194.6:c.222C=	ENSP00000445348.2:p.Phe74=
ENST00000540846.6:c.492C=	ENSP00000437757.2:p.Phe164=
ENST00000558428.5:c.222C=	ENSP00000454165.1:p.Phe74=
ENST00000558827.1:c.222C=	ENSP00000452767.1:p.Phe74=
ENST00000558894.5:c.492C=	ENSP00000458060.1:p.Phe164=
ENST00000560402.1:n.282+6805C=
NM_001145102.1:c.492C=	NP_001138574.1:p.Phe164=
NM_001145103.1:c.675C=	NP_001138575.1:p.Phe225=
NM_001145104.1:c.222C=	NP_001138576.1:p.Phe74=
NM_005902.3:c.807C=	NP_005893.1:p.Phe269=
XM_011521559.1:c.675C=	XP_011519861.1:p.Phe225=
XM_011521560.1:c.660C=	XP_011519862.1:p.Phe220=
XM_011521559.3:c.675C=	XP_011519861.1:p.Phe225=
NM_005902.4:c.807C= MANE Select	NP_005893.1:p.Phe269=
NM_001145102.2:c.492C=	NP_001138574.1:p.Phe164=
NM_001145103.2:c.675C=	NP_001138575.1:p.Phe225=
NM_001145104.2:c.222C=	NP_001138576.1:p.Phe74=