Canonical Allele Identifier: CA392958233

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479786C>G (hg19) ; chr15:g.67187448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187448C>G , CM000677.2:g.67187448C>G	GRCh38
NC_000015.9:g.67479786C>G , CM000677.1:g.67479786C>G	GRCh37
NC_000015.8:g.65266840C>G	NCBI36
NG_011990.1:g.126592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.508C>G	ENSP00000454165.2:p.Gln170Glu
ENST00000558739.2:c.778C>G	ENSP00000453684.2:p.Gln260Glu
ENST00000558827.2:c.508C>G	ENSP00000452767.2:p.Gln170Glu
ENST00000559460.6:c.778C>G	ENSP00000453082.2:p.Gln260Glu
ENST00000560424.2:c.1204C>G	ENSP00000455540.2:p.Gln402Glu
ENST00000327367.9:c.1093C>G MANE Select	ENSP00000332973.4:p.Gln365Glu
ENST00000679624.1:c.778C>G	ENSP00000505445.1:p.Gln260Glu
ENST00000680689.1:n.796C>G
ENST00000681239.1:c.778C>G	ENSP00000505641.1:p.Gln260Glu
ENST00000327367.8:c.1093C>G	ENSP00000332973.4:p.Gln365Glu
ENST00000439724.7:c.961C>G	ENSP00000401133.3:p.Gln321Glu
ENST00000537194.6:c.508C>G	ENSP00000445348.2:p.Gln170Glu
ENST00000540846.6:c.778C>G	ENSP00000437757.2:p.Gln260Glu
ENST00000558763.1:n.787C>G
ENST00000560402.1:n.283-5425C>G
ENST00000560424.1:c.285C>G
NM_001145102.1:c.778C>G	NP_001138574.1:p.Gln260Glu
NM_001145103.1:c.961C>G	NP_001138575.1:p.Gln321Glu
NM_001145104.1:c.508C>G	NP_001138576.1:p.Gln170Glu
NM_005902.3:c.1093C>G	NP_005893.1:p.Gln365Glu
XM_011521559.1:c.961C>G	XP_011519861.1:p.Gln321Glu
XM_011521560.1:c.946C>G	XP_011519862.1:p.Gln316Glu
XM_011521559.3:c.961C>G	XP_011519861.1:p.Gln321Glu
NM_005902.4:c.1093C>G MANE Select	NP_005893.1:p.Gln365Glu
NM_001145102.2:c.778C>G	NP_001138574.1:p.Gln260Glu
NM_001145103.2:c.961C>G	NP_001138575.1:p.Gln321Glu
NM_001145104.2:c.508C>G	NP_001138576.1:p.Gln170Glu