Canonical Allele Identifier: CA2184369012
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066190G= , CM000677.2:g.67066190G= GRCh38
NC_000015.9:g.67358528G= , CM000677.1:g.67358528G= GRCh37
NC_000015.8:g.65145582G= NCBI36
NG_011990.1:g.5334G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2246G= ENSP00000453082.2:n.-110+2246G=
ENST00000560424.2:c.36G= ENSP00000455540.2:p.Val12=
ENST00000327367.9:c.36G= MANE Select ENSP00000332973.4:p.Val12=
ENST00000327367.8:c.36G= ENSP00000332973.4:p.Val12=
ENST00000559460.5:c.-110+2246G= ENSP00000453082.1:n.-110+2246G=
NM_005902.3:c.36G= NP_005893.1:p.Val12=
XM_011521559.1:c.36G= XP_011519861.1:p.Val12=
XM_011521559.3:c.36G= XP_011519861.1:p.Val12=
NM_005902.4:c.36G= MANE Select NP_005893.1:p.Val12=