Canonical Allele Identifier: CA2184414967
Community Standard Title: NM_005902.4(SMAD3):c.860G= (p.Arg287=)
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181442G= , CM000677.2:g.67181442G= GRCh38
NC_000015.9:g.67473780G= , CM000677.1:g.67473780G= GRCh37
NC_000015.8:g.65260834G= NCBI36
NG_011990.1:g.120586G=

Transcript Alleles

HGVS Amino-acid Change
NM_005902.4:c.860G= MANE Select NP_005893.1:p.Arg287=
ENST00000327367.9:c.860G= MANE Select ENSP00000332973.4:p.Arg287=
NM_001145102.1:c.545G= NP_001138574.1:p.Arg182=
NM_001145102.2:c.545G= NP_001138574.1:p.Arg182=
NM_001145103.1:c.728G= NP_001138575.1:p.Arg243=
NM_001145103.2:c.728G= NP_001138575.1:p.Arg243=
NM_001145104.1:c.275G= NP_001138576.1:p.Arg92=
NM_001145104.2:c.275G= NP_001138576.1:p.Arg92=
NM_005902.3:c.860G= NP_005893.1:p.Arg287=
ENST00000327367.8:c.860G= ENSP00000332973.4:p.Arg287=
ENST00000439724.7:c.728G= ENSP00000401133.3:p.Arg243=
ENST00000537194.6:c.275G= ENSP00000445348.2:p.Arg92=
ENST00000540846.6:c.545G= ENSP00000437757.2:p.Arg182=
ENST00000558428.6:c.275G= ENSP00000454165.2:p.Arg92=
ENST00000558739.2:c.545G= ENSP00000453684.2:p.Arg182=
ENST00000558827.1:c.275G= ENSP00000452767.1:p.Arg92=
ENST00000558827.2:c.275G= ENSP00000452767.2:p.Arg92=
ENST00000558894.5:c.545G= ENSP00000458060.1:p.Arg182=
ENST00000559460.6:c.545G= ENSP00000453082.2:p.Arg182=
ENST00000560402.1:n.282+6858G=
ENST00000560424.2:c.860G= ENSP00000455540.2:p.Arg287=
ENST00000679624.1:c.545G= ENSP00000505445.1:p.Arg182=
ENST00000680689.1:n.563G=
ENST00000681239.1:c.545G= ENSP00000505641.1:p.Arg182=
XM_011521559.1:c.728G= XP_011519861.1:p.Arg243=
XM_011521559.3:c.728G= XP_011519861.1:p.Arg243=
XM_011521560.1:c.713G= XP_011519862.1:p.Arg238=