Canonical Allele Identifier: CA393202983
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066295G>C , CM000677.2:g.67066295G>C GRCh38
NC_000015.9:g.67358633G>C , CM000677.1:g.67358633G>C GRCh37
NC_000015.8:g.65145687G>C NCBI36
NG_011990.1:g.5439G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2351G>C ENSP00000453082.2:n.-110+2351G>C
ENST00000560424.2:c.141G>C ENSP00000455540.2:p.Gln47His
ENST00000327367.9:c.141G>C MANE Select ENSP00000332973.4:p.Gln47His
ENST00000327367.8:c.141G>C ENSP00000332973.4:p.Gln47His
ENST00000559460.5:c.-110+2351G>C ENSP00000453082.1:n.-110+2351G>C
NM_005902.3:c.141G>C NP_005893.1:p.Gln47His
XM_011521559.1:c.141G>C XP_011519861.1:p.Gln47His
XM_011521559.3:c.141G>C XP_011519861.1:p.Gln47His
NM_005902.4:c.141G>C MANE Select NP_005893.1:p.Gln47His