Canonical Allele Identifier: CA392954359
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165316A>T , CM000677.2:g.67165316A>T GRCh38
NC_000015.9:g.67457654A>T , CM000677.1:g.67457654A>T GRCh37
NC_000015.8:g.65244708A>T NCBI36
NG_011990.1:g.104460A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.149A>T ENSP00000453684.2:p.Asp50Val
ENST00000559460.6:c.149A>T ENSP00000453082.2:p.Asp50Val
ENST00000560424.2:c.464A>T ENSP00000455540.2:p.Asp155Val
ENST00000327367.9:c.464A>T MANE Select ENSP00000332973.4:p.Asp155Val
ENST00000679624.1:c.149A>T ENSP00000505445.1:p.Asp50Val
ENST00000681239.1:c.149A>T ENSP00000505641.1:p.Asp50Val
ENST00000327367.8:c.464A>T ENSP00000332973.4:p.Asp155Val
ENST00000439724.7:c.332A>T ENSP00000401133.3:p.Asp111Val
ENST00000540846.6:c.149A>T ENSP00000437757.2:p.Asp50Val
ENST00000558739.1:c.149A>T ENSP00000453684.1:p.Asp50Val
ENST00000558894.5:c.149A>T ENSP00000458060.1:p.Asp50Val
ENST00000559460.5:c.149A>T ENSP00000453082.1:p.Asp50Val
ENST00000559937.1:n.314A>T
ENST00000560175.5:c.149A>T ENSP00000455095.1:p.Asp50Val
NM_001145102.1:c.149A>T NP_001138574.1:p.Asp50Val
NM_001145103.1:c.332A>T NP_001138575.1:p.Asp111Val
NM_005902.3:c.464A>T NP_005893.1:p.Asp155Val
XM_011521559.1:c.400+228A>T XP_011519861.1:n.400+228A>T
XM_011521560.1:c.317A>T XP_011519862.1:p.Asp106Val
XM_011521559.3:c.400+228A>T XP_011519861.1:n.400+228A>T
NM_005902.4:c.464A>T MANE Select NP_005893.1:p.Asp155Val
NM_001145102.2:c.149A>T NP_001138574.1:p.Asp50Val
NM_001145103.2:c.332A>T NP_001138575.1:p.Asp111Val