Canonical Allele Identifier: CA062308

Gene: SMAD3

Linked Data

• dbSNP Id: rs768050588
• ExAC: 15:67457701 G / A
• gnomAD v2: 15-67457701-G-A
• gnomAD v3: 15-67165363-G-A
• gnomAD v4: 15-67165363-G-A
• MyVariant Identifiers: chr15:g.67457701G>A (hg19) ; chr15:g.67165363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165363G>A , CM000677.2:g.67165363G>A	GRCh38
NC_000015.9:g.67457701G>A , CM000677.1:g.67457701G>A	GRCh37
NC_000015.8:g.65244755G>A	NCBI36
NG_011990.1:g.104507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.196G>A	ENSP00000453684.2:p.Glu66Lys
ENST00000559460.6:c.196G>A	ENSP00000453082.2:p.Glu66Lys
ENST00000560424.2:c.511G>A	ENSP00000455540.2:p.Glu171Lys
ENST00000327367.9:c.511G>A MANE Select	ENSP00000332973.4:p.Glu171Lys
ENST00000679624.1:c.196G>A	ENSP00000505445.1:p.Glu66Lys
ENST00000681239.1:c.196G>A	ENSP00000505641.1:p.Glu66Lys
ENST00000327367.8:c.511G>A	ENSP00000332973.4:p.Glu171Lys
ENST00000439724.7:c.379G>A	ENSP00000401133.3:p.Glu127Lys
ENST00000540846.6:c.196G>A	ENSP00000437757.2:p.Glu66Lys
ENST00000558894.5:c.196G>A	ENSP00000458060.1:p.Glu66Lys
ENST00000559460.5:c.196G>A	ENSP00000453082.1:p.Glu66Lys
ENST00000559937.1:n.361G>A
ENST00000560175.5:c.196G>A	ENSP00000455095.1:p.Glu66Lys
NM_001145102.1:c.196G>A	NP_001138574.1:p.Glu66Lys
NM_001145103.1:c.379G>A	NP_001138575.1:p.Glu127Lys
NM_005902.3:c.511G>A	NP_005893.1:p.Glu171Lys
XM_011521559.1:c.400+275G>A	XP_011519861.1:n.400+275G>A
XM_011521560.1:c.364G>A	XP_011519862.1:p.Glu122Lys
XM_011521559.3:c.400+275G>A	XP_011519861.1:n.400+275G>A
NM_005902.4:c.511G>A MANE Select	NP_005893.1:p.Glu171Lys
NM_001145102.2:c.196G>A	NP_001138574.1:p.Glu66Lys
NM_001145103.2:c.379G>A	NP_001138575.1:p.Glu127Lys