Canonical Allele Identifier: CA392957302

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67477185T>C (hg19) ; chr15:g.67184847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184847T>C , CM000677.2:g.67184847T>C	GRCh38
NC_000015.9:g.67477185T>C , CM000677.1:g.67477185T>C	GRCh37
NC_000015.8:g.65264239T>C	NCBI36
NG_011990.1:g.123991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.407T>C	ENSP00000454165.2:p.Val136Ala
ENST00000558739.2:c.677T>C	ENSP00000453684.2:p.Val226Ala
ENST00000558827.2:c.407T>C	ENSP00000452767.2:p.Val136Ala
ENST00000559460.6:c.677T>C	ENSP00000453082.2:p.Val226Ala
ENST00000560424.2:c.992T>C	ENSP00000455540.2:p.Val331Ala
ENST00000327367.9:c.992T>C MANE Select	ENSP00000332973.4:p.Val331Ala
ENST00000679624.1:c.677T>C	ENSP00000505445.1:p.Val226Ala
ENST00000680689.1:n.695T>C
ENST00000681239.1:c.677T>C	ENSP00000505641.1:p.Val226Ala
ENST00000327367.8:c.992T>C	ENSP00000332973.4:p.Val331Ala
ENST00000439724.7:c.860T>C	ENSP00000401133.3:p.Val287Ala
ENST00000537194.6:c.407T>C	ENSP00000445348.2:p.Val136Ala
ENST00000540846.6:c.677T>C	ENSP00000437757.2:p.Val226Ala
ENST00000558894.5:c.557-2518T>C	ENSP00000458060.1:n.557-2518T>C
ENST00000560402.1:n.283-8026T>C
ENST00000560424.1:c.73T>C
NM_001145102.1:c.677T>C	NP_001138574.1:p.Val226Ala
NM_001145103.1:c.860T>C	NP_001138575.1:p.Val287Ala
NM_001145104.1:c.407T>C	NP_001138576.1:p.Val136Ala
NM_005902.3:c.992T>C	NP_005893.1:p.Val331Ala
XM_011521559.1:c.860T>C	XP_011519861.1:p.Val287Ala
XM_011521560.1:c.845T>C	XP_011519862.1:p.Val282Ala
XM_011521559.3:c.860T>C	XP_011519861.1:p.Val287Ala
NM_005902.4:c.992T>C MANE Select	NP_005893.1:p.Val331Ala
NM_001145102.2:c.677T>C	NP_001138574.1:p.Val226Ala
NM_001145103.2:c.860T>C	NP_001138575.1:p.Val287Ala
NM_001145104.2:c.407T>C	NP_001138576.1:p.Val136Ala