Canonical Allele Identifier: CA2184410337
Community Standard Title: NM_005902.4(SMAD3):c.277C= (p.Arg93=)
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164965C= , CM000677.2:g.67164965C= GRCh38
NC_000015.9:g.67457303C= , CM000677.1:g.67457303C= GRCh37
NC_000015.8:g.65244357C= NCBI36
NG_011990.1:g.104109C=

Transcript Alleles

HGVS Amino-acid Change
NM_005902.4:c.277C= MANE Select NP_005893.1:p.Arg93=
ENST00000327367.9:c.277C= MANE Select ENSP00000332973.4:p.Arg93=
NM_001145102.1:c.-39C= NP_001138574.1:n.-39C=
NM_001145102.2:c.-39C= NP_001138574.1:n.-39C=
NM_001145103.1:c.145C= NP_001138575.1:p.Arg49=
NM_001145103.2:c.145C= NP_001138575.1:p.Arg49=
NM_005902.3:c.277C= NP_005893.1:p.Arg93=
ENST00000327367.8:c.277C= ENSP00000332973.4:p.Arg93=
ENST00000439724.7:c.145C= ENSP00000401133.3:p.Arg49=
ENST00000540846.6:c.-39C= ENSP00000437757.2:n.-39C=
ENST00000558739.1:c.-39C= ENSP00000453684.1:n.-39C=
ENST00000558739.2:c.-39C= ENSP00000453684.2:n.-39C=
ENST00000558894.5:c.-39C= ENSP00000458060.1:n.-39C=
ENST00000559092.1:c.222C= ENSP00000453788.1:p.Gly74=
ENST00000559460.5:c.-39C= ENSP00000453082.1:n.-39C=
ENST00000559460.6:c.-39C= ENSP00000453082.2:n.-39C=
ENST00000559937.1:n.127C=
ENST00000560175.5:c.-39C= ENSP00000455095.1:n.-39C=
ENST00000560424.2:c.277C= ENSP00000455540.2:p.Arg93=
ENST00000679624.1:c.-39C= ENSP00000505445.1:n.-39C=
ENST00000681239.1:c.-39C= ENSP00000505641.1:n.-39C=
XM_011521559.1:c.277C= XP_011519861.1:p.Arg93=
XM_011521559.3:c.277C= XP_011519861.1:p.Arg93=
XM_011521560.1:c.130C= XP_011519862.1:p.Arg44=