Canonical Allele Identifier: CA392958195

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479768G>C (hg19) ; chr15:g.67187430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187430G>C , CM000677.2:g.67187430G>C	GRCh38
NC_000015.9:g.67479768G>C , CM000677.1:g.67479768G>C	GRCh37
NC_000015.8:g.65266822G>C	NCBI36
NG_011990.1:g.126574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.490G>C	ENSP00000454165.2:p.Gly164Arg
ENST00000558739.2:c.760G>C	ENSP00000453684.2:p.Gly254Arg
ENST00000558827.2:c.490G>C	ENSP00000452767.2:p.Gly164Arg
ENST00000559460.6:c.760G>C	ENSP00000453082.2:p.Gly254Arg
ENST00000560424.2:c.1186G>C	ENSP00000455540.2:p.Gly396Arg
ENST00000327367.9:c.1075G>C MANE Select	ENSP00000332973.4:p.Gly359Arg
ENST00000679624.1:c.760G>C	ENSP00000505445.1:p.Gly254Arg
ENST00000680689.1:n.778G>C
ENST00000681239.1:c.760G>C	ENSP00000505641.1:p.Gly254Arg
ENST00000327367.8:c.1075G>C	ENSP00000332973.4:p.Gly359Arg
ENST00000439724.7:c.943G>C	ENSP00000401133.3:p.Gly315Arg
ENST00000537194.6:c.490G>C	ENSP00000445348.2:p.Gly164Arg
ENST00000540846.6:c.760G>C	ENSP00000437757.2:p.Gly254Arg
ENST00000558763.1:n.769G>C
ENST00000558894.5:c.622G>C	ENSP00000458060.1:p.Gly208Arg
ENST00000560402.1:n.283-5443G>C
ENST00000560424.1:c.267G>C
NM_001145102.1:c.760G>C	NP_001138574.1:p.Gly254Arg
NM_001145103.1:c.943G>C	NP_001138575.1:p.Gly315Arg
NM_001145104.1:c.490G>C	NP_001138576.1:p.Gly164Arg
NM_005902.3:c.1075G>C	NP_005893.1:p.Gly359Arg
XM_011521559.1:c.943G>C	XP_011519861.1:p.Gly315Arg
XM_011521560.1:c.928G>C	XP_011519862.1:p.Gly310Arg
XM_011521559.3:c.943G>C	XP_011519861.1:p.Gly315Arg
NM_005902.4:c.1075G>C MANE Select	NP_005893.1:p.Gly359Arg
NM_001145102.2:c.760G>C	NP_001138574.1:p.Gly254Arg
NM_001145103.2:c.943G>C	NP_001138575.1:p.Gly315Arg
NM_001145104.2:c.490G>C	NP_001138576.1:p.Gly164Arg