Canonical Allele Identifier: CA2184420915

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187413C= , CM000677.2:g.67187413C=	GRCh38
NC_000015.9:g.67479751C= , CM000677.1:g.67479751C=	GRCh37
NC_000015.8:g.65266805C=	NCBI36
NG_011990.1:g.126557C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.473C=	ENSP00000454165.2:p.Ala158=
ENST00000558739.2:c.743C=	ENSP00000453684.2:p.Ala248=
ENST00000558827.2:c.473C=	ENSP00000452767.2:p.Ala158=
ENST00000559460.6:c.743C=	ENSP00000453082.2:p.Ala248=
ENST00000560424.2:c.1169C=	ENSP00000455540.2:p.Ala390=
ENST00000327367.9:c.1058C= MANE Select	ENSP00000332973.4:p.Ala353=
ENST00000679624.1:c.743C=	ENSP00000505445.1:p.Ala248=
ENST00000680689.1:n.761C=
ENST00000681239.1:c.743C=	ENSP00000505641.1:p.Ala248=
ENST00000327367.8:c.1058C=	ENSP00000332973.4:p.Ala353=
ENST00000439724.7:c.926C=	ENSP00000401133.3:p.Ala309=
ENST00000537194.6:c.473C=	ENSP00000445348.2:p.Ala158=
ENST00000540846.6:c.743C=	ENSP00000437757.2:p.Ala248=
ENST00000558763.1:n.752C=
ENST00000558894.5:c.605C=	ENSP00000458060.1:p.Ala202=
ENST00000560402.1:n.283-5460C=
ENST00000560424.1:c.250C=
NM_001145102.1:c.743C=	NP_001138574.1:p.Ala248=
NM_001145103.1:c.926C=	NP_001138575.1:p.Ala309=
NM_001145104.1:c.473C=	NP_001138576.1:p.Ala158=
NM_005902.3:c.1058C=	NP_005893.1:p.Ala353=
XM_011521559.1:c.926C=	XP_011519861.1:p.Ala309=
XM_011521560.1:c.911C=	XP_011519862.1:p.Ala304=
XM_011521559.3:c.926C=	XP_011519861.1:p.Ala309=
NM_005902.4:c.1058C= MANE Select	NP_005893.1:p.Ala353=
NM_001145102.2:c.743C=	NP_001138574.1:p.Ala248=
NM_001145103.2:c.926C=	NP_001138575.1:p.Ala309=
NM_001145104.2:c.473C=	NP_001138576.1:p.Ala158=