Canonical Allele Identifier: CA393202759
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066201T>A , CM000677.2:g.67066201T>A GRCh38
NC_000015.9:g.67358539T>A , CM000677.1:g.67358539T>A GRCh37
NC_000015.8:g.65145593T>A NCBI36
NG_011990.1:g.5345T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2257T>A ENSP00000453082.2:n.-110+2257T>A
ENST00000560424.2:c.47T>A ENSP00000455540.2:p.Leu16Gln
ENST00000327367.9:c.47T>A MANE Select ENSP00000332973.4:p.Leu16Gln
ENST00000327367.8:c.47T>A ENSP00000332973.4:p.Leu16Gln
ENST00000559460.5:c.-110+2257T>A ENSP00000453082.1:n.-110+2257T>A
NM_005902.3:c.47T>A NP_005893.1:p.Leu16Gln
XM_011521559.1:c.47T>A XP_011519861.1:p.Leu16Gln
XM_011521559.3:c.47T>A XP_011519861.1:p.Leu16Gln
NM_005902.4:c.47T>A MANE Select NP_005893.1:p.Leu16Gln