Canonical Allele Identifier: CA392957337
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.413A>T ENSP00000454165.2:p.Lys138Met
ENST00000558739.2:c.683A>T ENSP00000453684.2:p.Lys228Met
ENST00000558827.2:c.413A>T ENSP00000452767.2:p.Lys138Met
ENST00000559460.6:c.683A>T ENSP00000453082.2:p.Lys228Met
ENST00000560424.2:c.998A>T ENSP00000455540.2:p.Lys333Met
ENST00000327367.9:c.998A>T MANE Select ENSP00000332973.4:p.Lys333Met
ENST00000679624.1:c.683A>T ENSP00000505445.1:p.Lys228Met
ENST00000680689.1:n.701A>T
ENST00000681239.1:c.683A>T ENSP00000505641.1:p.Lys228Met
ENST00000327367.8:c.998A>T ENSP00000332973.4:p.Lys333Met
ENST00000439724.7:c.866A>T ENSP00000401133.3:p.Lys289Met
ENST00000537194.6:c.413A>T ENSP00000445348.2:p.Lys138Met
ENST00000540846.6:c.683A>T ENSP00000437757.2:p.Lys228Met
ENST00000558894.5:c.557-2512A>T ENSP00000458060.1:n.557-2512A>T
ENST00000560402.1:n.283-8020A>T
ENST00000560424.1:c.79A>T
NM_001145102.1:c.683A>T NP_001138574.1:p.Lys228Met
NM_001145103.1:c.866A>T NP_001138575.1:p.Lys289Met
NM_001145104.1:c.413A>T NP_001138576.1:p.Lys138Met
NM_005902.3:c.998A>T NP_005893.1:p.Lys333Met
XM_011521559.1:c.866A>T XP_011519861.1:p.Lys289Met
XM_011521560.1:c.851A>T XP_011519862.1:p.Lys284Met
XM_011521559.3:c.866A>T XP_011519861.1:p.Lys289Met
NM_005902.4:c.998A>T MANE Select NP_005893.1:p.Lys333Met
NM_001145102.2:c.683A>T NP_001138574.1:p.Lys228Met
NM_001145103.2:c.866A>T NP_001138575.1:p.Lys289Met
NM_001145104.2:c.413A>T NP_001138576.1:p.Lys138Met