Canonical Allele Identifier: CA393202842

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066236G>C , CM000677.2:g.67066236G>C	GRCh38
NC_000015.9:g.67358574G>C , CM000677.1:g.67358574G>C	GRCh37
NC_000015.8:g.65145628G>C	NCBI36
NG_011990.1:g.5380G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005902.4:c.82G>C MANE Select	NP_005893.1:p.Glu28Gln
ENST00000327367.9:c.82G>C MANE Select	ENSP00000332973.4:p.Glu28Gln
NM_005902.3:c.82G>C	NP_005893.1:p.Glu28Gln
ENST00000327367.8:c.82G>C	ENSP00000332973.4:p.Glu28Gln
ENST00000559460.5:c.-110+2292G>C	ENSP00000453082.1:n.-110+2292G>C
ENST00000559460.6:c.-110+2292G>C	ENSP00000453082.2:n.-110+2292G>C
ENST00000560424.2:c.82G>C	ENSP00000455540.2:p.Glu28Gln
XM_011521559.1:c.82G>C	XP_011519861.1:p.Glu28Gln
XM_011521559.3:c.82G>C	XP_011519861.1:p.Glu28Gln