Canonical Allele Identifier: CA2184414904

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181403T= , CM000677.2:g.67181403T=	GRCh38
NC_000015.9:g.67473741T= , CM000677.1:g.67473741T=	GRCh37
NC_000015.8:g.65260795T=	NCBI36
NG_011990.1:g.120547T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.236T=	ENSP00000454165.2:p.Leu79=
ENST00000558739.2:c.506T=	ENSP00000453684.2:p.Leu169=
ENST00000558827.2:c.236T=	ENSP00000452767.2:p.Leu79=
ENST00000559460.6:c.506T=	ENSP00000453082.2:p.Leu169=
ENST00000560424.2:c.821T=	ENSP00000455540.2:p.Leu274=
ENST00000327367.9:c.821T= MANE Select	ENSP00000332973.4:p.Leu274=
ENST00000679624.1:c.506T=	ENSP00000505445.1:p.Leu169=
ENST00000680689.1:n.524T=
ENST00000681239.1:c.506T=	ENSP00000505641.1:p.Leu169=
ENST00000327367.8:c.821T=	ENSP00000332973.4:p.Leu274=
ENST00000439724.7:c.689T=	ENSP00000401133.3:p.Leu230=
ENST00000537194.6:c.236T=	ENSP00000445348.2:p.Leu79=
ENST00000540846.6:c.506T=	ENSP00000437757.2:p.Leu169=
ENST00000558428.5:c.236T=	ENSP00000454165.1:p.Leu79=
ENST00000558827.1:c.236T=	ENSP00000452767.1:p.Leu79=
ENST00000558894.5:c.506T=	ENSP00000458060.1:p.Leu169=
ENST00000560402.1:n.282+6819T=
NM_001145102.1:c.506T=	NP_001138574.1:p.Leu169=
NM_001145103.1:c.689T=	NP_001138575.1:p.Leu230=
NM_001145104.1:c.236T=	NP_001138576.1:p.Leu79=
NM_005902.3:c.821T=	NP_005893.1:p.Leu274=
XM_011521559.1:c.689T=	XP_011519861.1:p.Leu230=
XM_011521560.1:c.674T=	XP_011519862.1:p.Leu225=
XM_011521559.3:c.689T=	XP_011519861.1:p.Leu230=
NM_005902.4:c.821T= MANE Select	NP_005893.1:p.Leu274=
NM_001145102.2:c.506T=	NP_001138574.1:p.Leu169=
NM_001145103.2:c.689T=	NP_001138575.1:p.Leu230=
NM_001145104.2:c.236T=	NP_001138576.1:p.Leu79=