Canonical Allele Identifier: CA020109
Gene: SMAD3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181364C>T , CM000677.2:g.67181364C>T GRCh38
NC_000015.9:g.67473702C>T , CM000677.1:g.67473702C>T GRCh37
NC_000015.8:g.65260756C>T NCBI36
NG_011990.1:g.120508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.197C>T ENSP00000454165.2:p.Thr66Ile
ENST00000558739.2:c.467C>T ENSP00000453684.2:p.Thr156Ile
ENST00000558827.2:c.197C>T ENSP00000452767.2:p.Thr66Ile
ENST00000559460.6:c.467C>T ENSP00000453082.2:p.Thr156Ile
ENST00000560424.2:c.782C>T ENSP00000455540.2:p.Thr261Ile
ENST00000327367.9:c.782C>T MANE Select ENSP00000332973.4:p.Thr261Ile
ENST00000679624.1:c.467C>T ENSP00000505445.1:p.Thr156Ile
ENST00000680689.1:n.485C>T
ENST00000681239.1:c.467C>T ENSP00000505641.1:p.Thr156Ile
ENST00000327367.8:c.782C>T ENSP00000332973.4:p.Thr261Ile
ENST00000439724.7:c.650C>T ENSP00000401133.3:p.Thr217Ile
ENST00000537194.6:c.197C>T ENSP00000445348.2:p.Thr66Ile
ENST00000540846.6:c.467C>T ENSP00000437757.2:p.Thr156Ile
ENST00000558428.5:c.197C>T ENSP00000454165.1:p.Thr66Ile
ENST00000558827.1:c.197C>T ENSP00000452767.1:p.Thr66Ile
ENST00000558894.5:c.467C>T ENSP00000458060.1:p.Thr156Ile
ENST00000560402.1:n.282+6780C>T
NM_001145102.1:c.467C>T NP_001138574.1:p.Thr156Ile
NM_001145103.1:c.650C>T NP_001138575.1:p.Thr217Ile
NM_001145104.1:c.197C>T NP_001138576.1:p.Thr66Ile
NM_005902.3:c.782C>T NP_005893.1:p.Thr261Ile
XM_011521559.1:c.650C>T XP_011519861.1:p.Thr217Ile
XM_011521560.1:c.635C>T XP_011519862.1:p.Thr212Ile
XM_011521559.3:c.650C>T XP_011519861.1:p.Thr217Ile
NM_005902.4:c.782C>T MANE Select NP_005893.1:p.Thr261Ile
NM_001145102.2:c.467C>T NP_001138574.1:p.Thr156Ile
NM_001145103.2:c.650C>T NP_001138575.1:p.Thr217Ile
NM_001145104.2:c.197C>T NP_001138576.1:p.Thr66Ile