Canonical Allele Identifier: CA393203032
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2128346
ClinVar RCV Id: RCV003036294

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066317A>T , CM000677.2:g.67066317A>T GRCh38
NC_000015.9:g.67358655A>T , CM000677.1:g.67358655A>T GRCh37
NC_000015.8:g.65145709A>T NCBI36
NG_011990.1:g.5461A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2373A>T ENSP00000453082.2:n.-110+2373A>T
ENST00000560424.2:c.163A>T ENSP00000455540.2:p.Ile55Phe
ENST00000327367.9:c.163A>T MANE Select ENSP00000332973.4:p.Ile55Phe
ENST00000327367.8:c.163A>T ENSP00000332973.4:p.Ile55Phe
ENST00000559460.5:c.-110+2373A>T ENSP00000453082.1:n.-110+2373A>T
NM_005902.3:c.163A>T NP_005893.1:p.Ile55Phe
XM_011521559.1:c.163A>T XP_011519861.1:p.Ile55Phe
XM_011521559.3:c.163A>T XP_011519861.1:p.Ile55Phe
NM_005902.4:c.163A>T MANE Select NP_005893.1:p.Ile55Phe