Canonical Allele Identifier: CA2184414881
Community Standard Title: NM_005902.4(SMAD3):c.802C= (p.Arg268=)
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181384C= , CM000677.2:g.67181384C= GRCh38
NC_000015.9:g.67473722C= , CM000677.1:g.67473722C= GRCh37
NC_000015.8:g.65260776C= NCBI36
NG_011990.1:g.120528C=

Transcript Alleles

HGVS Amino-acid Change
NM_005902.4:c.802C= MANE Select NP_005893.1:p.Arg268=
ENST00000327367.9:c.802C= MANE Select ENSP00000332973.4:p.Arg268=
NM_001145102.1:c.487C= NP_001138574.1:p.Arg163=
NM_001145102.2:c.487C= NP_001138574.1:p.Arg163=
NM_001145103.1:c.670C= NP_001138575.1:p.Arg224=
NM_001145103.2:c.670C= NP_001138575.1:p.Arg224=
NM_001145104.1:c.217C= NP_001138576.1:p.Arg73=
NM_001145104.2:c.217C= NP_001138576.1:p.Arg73=
NM_005902.3:c.802C= NP_005893.1:p.Arg268=
ENST00000327367.8:c.802C= ENSP00000332973.4:p.Arg268=
ENST00000439724.7:c.670C= ENSP00000401133.3:p.Arg224=
ENST00000537194.6:c.217C= ENSP00000445348.2:p.Arg73=
ENST00000540846.6:c.487C= ENSP00000437757.2:p.Arg163=
ENST00000558428.5:c.217C= ENSP00000454165.1:p.Arg73=
ENST00000558428.6:c.217C= ENSP00000454165.2:p.Arg73=
ENST00000558739.2:c.487C= ENSP00000453684.2:p.Arg163=
ENST00000558827.1:c.217C= ENSP00000452767.1:p.Arg73=
ENST00000558827.2:c.217C= ENSP00000452767.2:p.Arg73=
ENST00000558894.5:c.487C= ENSP00000458060.1:p.Arg163=
ENST00000559460.6:c.487C= ENSP00000453082.2:p.Arg163=
ENST00000560402.1:n.282+6800C=
ENST00000560424.2:c.802C= ENSP00000455540.2:p.Arg268=
ENST00000679624.1:c.487C= ENSP00000505445.1:p.Arg163=
ENST00000680689.1:n.505C=
ENST00000681239.1:c.487C= ENSP00000505641.1:p.Arg163=
XM_011521559.1:c.670C= XP_011519861.1:p.Arg224=
XM_011521559.3:c.670C= XP_011519861.1:p.Arg224=
XM_011521560.1:c.655C= XP_011519862.1:p.Arg219=