Canonical Allele Identifier: CA16621675

Gene: SMAD3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187436G>A , CM000677.2:g.67187436G>A	GRCh38
NC_000015.9:g.67479774G>A , CM000677.1:g.67479774G>A	GRCh37
NC_000015.8:g.65266828G>A	NCBI36
NG_011990.1:g.126580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.496G>A	ENSP00000454165.2:p.Glu166Lys
ENST00000558739.2:c.766G>A	ENSP00000453684.2:p.Glu256Lys
ENST00000558827.2:c.496G>A	ENSP00000452767.2:p.Glu166Lys
ENST00000559460.6:c.766G>A	ENSP00000453082.2:p.Glu256Lys
ENST00000560424.2:c.1192G>A	ENSP00000455540.2:p.Glu398Lys
ENST00000327367.9:c.1081G>A MANE Select	ENSP00000332973.4:p.Glu361Lys
ENST00000679624.1:c.766G>A	ENSP00000505445.1:p.Glu256Lys
ENST00000680689.1:n.784G>A
ENST00000681239.1:c.766G>A	ENSP00000505641.1:p.Glu256Lys
ENST00000327367.8:c.1081G>A	ENSP00000332973.4:p.Glu361Lys
ENST00000439724.7:c.949G>A	ENSP00000401133.3:p.Glu317Lys
ENST00000537194.6:c.496G>A	ENSP00000445348.2:p.Glu166Lys
ENST00000540846.6:c.766G>A	ENSP00000437757.2:p.Glu256Lys
ENST00000558763.1:n.775G>A
ENST00000558894.5:c.628G>A	ENSP00000458060.1:p.Glu210Lys
ENST00000560402.1:n.283-5437G>A
ENST00000560424.1:c.273G>A
NM_001145102.1:c.766G>A	NP_001138574.1:p.Glu256Lys
NM_001145103.1:c.949G>A	NP_001138575.1:p.Glu317Lys
NM_001145104.1:c.496G>A	NP_001138576.1:p.Glu166Lys
NM_005902.3:c.1081G>A	NP_005893.1:p.Glu361Lys
XM_011521559.1:c.949G>A	XP_011519861.1:p.Glu317Lys
XM_011521560.1:c.934G>A	XP_011519862.1:p.Glu312Lys
XM_011521559.3:c.949G>A	XP_011519861.1:p.Glu317Lys
NM_005902.4:c.1081G>A MANE Select	NP_005893.1:p.Glu361Lys
NM_001145102.2:c.766G>A	NP_001138574.1:p.Glu256Lys
NM_001145103.2:c.949G>A	NP_001138575.1:p.Glu317Lys
NM_001145104.2:c.496G>A	NP_001138576.1:p.Glu166Lys