Canonical Allele Identifier: CA392954330

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67457640C>A (hg19) ; chr15:g.67165302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165302C>A , CM000677.2:g.67165302C>A	GRCh38
NC_000015.9:g.67457640C>A , CM000677.1:g.67457640C>A	GRCh37
NC_000015.8:g.65244694C>A	NCBI36
NG_011990.1:g.104446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.135C>A	ENSP00000453684.2:p.Phe45Leu
ENST00000559460.6:c.135C>A	ENSP00000453082.2:p.Phe45Leu
ENST00000560424.2:c.450C>A	ENSP00000455540.2:p.Phe150Leu
ENST00000327367.9:c.450C>A MANE Select	ENSP00000332973.4:p.Phe150Leu
ENST00000679624.1:c.135C>A	ENSP00000505445.1:p.Phe45Leu
ENST00000681239.1:c.135C>A	ENSP00000505641.1:p.Phe45Leu
ENST00000327367.8:c.450C>A	ENSP00000332973.4:p.Phe150Leu
ENST00000439724.7:c.318C>A	ENSP00000401133.3:p.Phe106Leu
ENST00000540846.6:c.135C>A	ENSP00000437757.2:p.Phe45Leu
ENST00000558739.1:c.135C>A	ENSP00000453684.1:p.Phe45Leu
ENST00000558894.5:c.135C>A	ENSP00000458060.1:p.Phe45Leu
ENST00000559460.5:c.135C>A	ENSP00000453082.1:p.Phe45Leu
ENST00000559937.1:n.300C>A
ENST00000560175.5:c.135C>A	ENSP00000455095.1:p.Phe45Leu
NM_001145102.1:c.135C>A	NP_001138574.1:p.Phe45Leu
NM_001145103.1:c.318C>A	NP_001138575.1:p.Phe106Leu
NM_005902.3:c.450C>A	NP_005893.1:p.Phe150Leu
XM_011521559.1:c.400+214C>A	XP_011519861.1:n.400+214C>A
XM_011521560.1:c.303C>A	XP_011519862.1:p.Phe101Leu
XM_011521559.3:c.400+214C>A	XP_011519861.1:n.400+214C>A
NM_005902.4:c.450C>A MANE Select	NP_005893.1:p.Phe150Leu
NM_001145102.2:c.135C>A	NP_001138574.1:p.Phe45Leu
NM_001145103.2:c.318C>A	NP_001138575.1:p.Phe106Leu