Canonical Allele Identifier: CA2184369244
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066302G= , CM000677.2:g.67066302G= GRCh38
NC_000015.9:g.67358640G= , CM000677.1:g.67358640G= GRCh37
NC_000015.8:g.65145694G= NCBI36
NG_011990.1:g.5446G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2358G= ENSP00000453082.2:n.-110+2358G=
ENST00000560424.2:c.148G= ENSP00000455540.2:p.Glu50=
ENST00000327367.9:c.148G= MANE Select ENSP00000332973.4:p.Glu50=
ENST00000327367.8:c.148G= ENSP00000332973.4:p.Glu50=
ENST00000559460.5:c.-110+2358G= ENSP00000453082.1:n.-110+2358G=
NM_005902.3:c.148G= NP_005893.1:p.Glu50=
XM_011521559.1:c.148G= XP_011519861.1:p.Glu50=
XM_011521559.3:c.148G= XP_011519861.1:p.Glu50=
NM_005902.4:c.148G= MANE Select NP_005893.1:p.Glu50=