Canonical Allele Identifier: CA392958203

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479772T>A (hg19) ; chr15:g.67187434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187434T>A , CM000677.2:g.67187434T>A	GRCh38
NC_000015.9:g.67479772T>A , CM000677.1:g.67479772T>A	GRCh37
NC_000015.8:g.65266826T>A	NCBI36
NG_011990.1:g.126578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.494T>A	ENSP00000454165.2:p.Phe165Tyr
ENST00000558739.2:c.764T>A	ENSP00000453684.2:p.Phe255Tyr
ENST00000558827.2:c.494T>A	ENSP00000452767.2:p.Phe165Tyr
ENST00000559460.6:c.764T>A	ENSP00000453082.2:p.Phe255Tyr
ENST00000560424.2:c.1190T>A	ENSP00000455540.2:p.Phe397Tyr
ENST00000327367.9:c.1079T>A MANE Select	ENSP00000332973.4:p.Phe360Tyr
ENST00000679624.1:c.764T>A	ENSP00000505445.1:p.Phe255Tyr
ENST00000680689.1:n.782T>A
ENST00000681239.1:c.764T>A	ENSP00000505641.1:p.Phe255Tyr
ENST00000327367.8:c.1079T>A	ENSP00000332973.4:p.Phe360Tyr
ENST00000439724.7:c.947T>A	ENSP00000401133.3:p.Phe316Tyr
ENST00000537194.6:c.494T>A	ENSP00000445348.2:p.Phe165Tyr
ENST00000540846.6:c.764T>A	ENSP00000437757.2:p.Phe255Tyr
ENST00000558763.1:n.773T>A
ENST00000558894.5:c.626T>A	ENSP00000458060.1:p.Phe209Tyr
ENST00000560402.1:n.283-5439T>A
ENST00000560424.1:c.271T>A
NM_001145102.1:c.764T>A	NP_001138574.1:p.Phe255Tyr
NM_001145103.1:c.947T>A	NP_001138575.1:p.Phe316Tyr
NM_001145104.1:c.494T>A	NP_001138576.1:p.Phe165Tyr
NM_005902.3:c.1079T>A	NP_005893.1:p.Phe360Tyr
XM_011521559.1:c.947T>A	XP_011519861.1:p.Phe316Tyr
XM_011521560.1:c.932T>A	XP_011519862.1:p.Phe311Tyr
XM_011521559.3:c.947T>A	XP_011519861.1:p.Phe316Tyr
NM_005902.4:c.1079T>A MANE Select	NP_005893.1:p.Phe360Tyr
NM_001145102.2:c.764T>A	NP_001138574.1:p.Phe255Tyr
NM_001145103.2:c.947T>A	NP_001138575.1:p.Phe316Tyr
NM_001145104.2:c.494T>A	NP_001138576.1:p.Phe165Tyr