Canonical Allele Identifier: CA392957333
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67184853A>C , CM000677.2:g.67184853A>C GRCh38
NC_000015.9:g.67477191A>C , CM000677.1:g.67477191A>C GRCh37
NC_000015.8:g.65264245A>C NCBI36
NG_011990.1:g.123997A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.413A>C ENSP00000454165.2:p.Lys138Thr
ENST00000558739.2:c.683A>C ENSP00000453684.2:p.Lys228Thr
ENST00000558827.2:c.413A>C ENSP00000452767.2:p.Lys138Thr
ENST00000559460.6:c.683A>C ENSP00000453082.2:p.Lys228Thr
ENST00000560424.2:c.998A>C ENSP00000455540.2:p.Lys333Thr
ENST00000327367.9:c.998A>C MANE Select ENSP00000332973.4:p.Lys333Thr
ENST00000679624.1:c.683A>C ENSP00000505445.1:p.Lys228Thr
ENST00000680689.1:n.701A>C
ENST00000681239.1:c.683A>C ENSP00000505641.1:p.Lys228Thr
ENST00000327367.8:c.998A>C ENSP00000332973.4:p.Lys333Thr
ENST00000439724.7:c.866A>C ENSP00000401133.3:p.Lys289Thr
ENST00000537194.6:c.413A>C ENSP00000445348.2:p.Lys138Thr
ENST00000540846.6:c.683A>C ENSP00000437757.2:p.Lys228Thr
ENST00000558894.5:c.557-2512A>C ENSP00000458060.1:n.557-2512A>C
ENST00000560402.1:n.283-8020A>C
ENST00000560424.1:c.79A>C
NM_001145102.1:c.683A>C NP_001138574.1:p.Lys228Thr
NM_001145103.1:c.866A>C NP_001138575.1:p.Lys289Thr
NM_001145104.1:c.413A>C NP_001138576.1:p.Lys138Thr
NM_005902.3:c.998A>C NP_005893.1:p.Lys333Thr
XM_011521559.1:c.866A>C XP_011519861.1:p.Lys289Thr
XM_011521560.1:c.851A>C XP_011519862.1:p.Lys284Thr
XM_011521559.3:c.866A>C XP_011519861.1:p.Lys289Thr
NM_005902.4:c.998A>C MANE Select NP_005893.1:p.Lys333Thr
NM_001145102.2:c.683A>C NP_001138574.1:p.Lys228Thr
NM_001145103.2:c.866A>C NP_001138575.1:p.Lys289Thr
NM_001145104.2:c.413A>C NP_001138576.1:p.Lys138Thr