Canonical Allele Identifier: CA2184369119
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066235G= , CM000677.2:g.67066235G= GRCh38
NC_000015.9:g.67358573G= , CM000677.1:g.67358573G= GRCh37
NC_000015.8:g.65145627G= NCBI36
NG_011990.1:g.5379G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2291G= ENSP00000453082.2:n.-110+2291G=
ENST00000560424.2:c.81G= ENSP00000455540.2:p.Glu27=
ENST00000327367.9:c.81G= MANE Select ENSP00000332973.4:p.Glu27=
ENST00000327367.8:c.81G= ENSP00000332973.4:p.Glu27=
ENST00000559460.5:c.-110+2291G= ENSP00000453082.1:n.-110+2291G=
NM_005902.3:c.81G= NP_005893.1:p.Glu27=
XM_011521559.1:c.81G= XP_011519861.1:p.Glu27=
XM_011521559.3:c.81G= XP_011519861.1:p.Glu27=
NM_005902.4:c.81G= MANE Select NP_005893.1:p.Glu27=