Canonical Allele Identifier: CA020124

Gene: SMAD3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181418G>A , CM000677.2:g.67181418G>A	GRCh38
NC_000015.9:g.67473756G>A , CM000677.1:g.67473756G>A	GRCh37
NC_000015.8:g.65260810G>A	NCBI36
NG_011990.1:g.120562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.251G>A	ENSP00000454165.2:p.Arg84Lys
ENST00000558739.2:c.521G>A	ENSP00000453684.2:p.Arg174Lys
ENST00000558827.2:c.251G>A	ENSP00000452767.2:p.Arg84Lys
ENST00000559460.6:c.521G>A	ENSP00000453082.2:p.Arg174Lys
ENST00000560424.2:c.836G>A	ENSP00000455540.2:p.Arg279Lys
ENST00000327367.9:c.836G>A MANE Select	ENSP00000332973.4:p.Arg279Lys
ENST00000679624.1:c.521G>A	ENSP00000505445.1:p.Arg174Lys
ENST00000680689.1:n.539G>A
ENST00000681239.1:c.521G>A	ENSP00000505641.1:p.Arg174Lys
ENST00000327367.8:c.836G>A	ENSP00000332973.4:p.Arg279Lys
ENST00000439724.7:c.704G>A	ENSP00000401133.3:p.Arg235Lys
ENST00000537194.6:c.251G>A	ENSP00000445348.2:p.Arg84Lys
ENST00000540846.6:c.521G>A	ENSP00000437757.2:p.Arg174Lys
ENST00000558428.5:c.251G>A	ENSP00000454165.1:p.Arg84Lys
ENST00000558827.1:c.251G>A	ENSP00000452767.1:p.Arg84Lys
ENST00000558894.5:c.521G>A	ENSP00000458060.1:p.Arg174Lys
ENST00000560402.1:n.282+6834G>A
NM_001145102.1:c.521G>A	NP_001138574.1:p.Arg174Lys
NM_001145103.1:c.704G>A	NP_001138575.1:p.Arg235Lys
NM_001145104.1:c.251G>A	NP_001138576.1:p.Arg84Lys
NM_005902.3:c.836G>A	NP_005893.1:p.Arg279Lys
XM_011521559.1:c.704G>A	XP_011519861.1:p.Arg235Lys
XM_011521560.1:c.689G>A	XP_011519862.1:p.Arg230Lys
XM_011521559.3:c.704G>A	XP_011519861.1:p.Arg235Lys
NM_005902.4:c.836G>A MANE Select	NP_005893.1:p.Arg279Lys
NM_001145102.2:c.521G>A	NP_001138574.1:p.Arg174Lys
NM_001145103.2:c.704G>A	NP_001138575.1:p.Arg235Lys
NM_001145104.2:c.251G>A	NP_001138576.1:p.Arg84Lys