Canonical Allele Identifier: CA2184368932
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066164A= , CM000677.2:g.67066164A= GRCh38
NC_000015.9:g.67358502A= , CM000677.1:g.67358502A= GRCh37
NC_000015.8:g.65145556A= NCBI36
NG_011990.1:g.5308A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2220A= ENSP00000453082.2:n.-110+2220A=
ENST00000560424.2:c.10A= ENSP00000455540.2:p.Ile4=
ENST00000327367.9:c.10A= MANE Select ENSP00000332973.4:p.Ile4=
ENST00000327367.8:c.10A= ENSP00000332973.4:p.Ile4=
ENST00000559460.5:c.-110+2220A= ENSP00000453082.1:n.-110+2220A=
NM_005902.3:c.10A= NP_005893.1:p.Ile4=
XM_011521559.1:c.10A= XP_011519861.1:p.Ile4=
XM_011521559.3:c.10A= XP_011519861.1:p.Ile4=
NM_005902.4:c.10A= MANE Select NP_005893.1:p.Ile4=