Canonical Allele Identifier: CA392956225
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181349C>T , CM000677.2:g.67181349C>T GRCh38
NC_000015.9:g.67473687C>T , CM000677.1:g.67473687C>T GRCh37
NC_000015.8:g.65260741C>T NCBI36
NG_011990.1:g.120493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.182C>T ENSP00000454165.2:p.Thr61Ile
ENST00000558739.2:c.452C>T ENSP00000453684.2:p.Thr151Ile
ENST00000558827.2:c.182C>T ENSP00000452767.2:p.Thr61Ile
ENST00000559460.6:c.452C>T ENSP00000453082.2:p.Thr151Ile
ENST00000560424.2:c.767C>T ENSP00000455540.2:p.Thr256Ile
ENST00000327367.9:c.767C>T MANE Select ENSP00000332973.4:p.Thr256Ile
ENST00000679624.1:c.452C>T ENSP00000505445.1:p.Thr151Ile
ENST00000680689.1:n.470C>T
ENST00000681239.1:c.452C>T ENSP00000505641.1:p.Thr151Ile
ENST00000327367.8:c.767C>T ENSP00000332973.4:p.Thr256Ile
ENST00000439724.7:c.635C>T ENSP00000401133.3:p.Thr212Ile
ENST00000537194.6:c.182C>T ENSP00000445348.2:p.Thr61Ile
ENST00000540846.6:c.452C>T ENSP00000437757.2:p.Thr151Ile
ENST00000558428.5:c.182C>T ENSP00000454165.1:p.Thr61Ile
ENST00000558827.1:c.182C>T ENSP00000452767.1:p.Thr61Ile
ENST00000558894.5:c.452C>T ENSP00000458060.1:p.Thr151Ile
ENST00000560402.1:n.282+6765C>T
NM_001145102.1:c.452C>T NP_001138574.1:p.Thr151Ile
NM_001145103.1:c.635C>T NP_001138575.1:p.Thr212Ile
NM_001145104.1:c.182C>T NP_001138576.1:p.Thr61Ile
NM_005902.3:c.767C>T NP_005893.1:p.Thr256Ile
XM_011521559.1:c.635C>T XP_011519861.1:p.Thr212Ile
XM_011521560.1:c.620C>T XP_011519862.1:p.Thr207Ile
XM_011521559.3:c.635C>T XP_011519861.1:p.Thr212Ile
NM_005902.4:c.767C>T MANE Select NP_005893.1:p.Thr256Ile
NM_001145102.2:c.452C>T NP_001138574.1:p.Thr151Ile
NM_001145103.2:c.635C>T NP_001138575.1:p.Thr212Ile
NM_001145104.2:c.182C>T NP_001138576.1:p.Thr61Ile