Canonical Allele Identifier: CA393203064

Gene: SMAD3

Linked Data

• dbSNP Id: rs1959915757
• gnomAD v3: 15-67066332-G-A
• gnomAD v4: 15-67066332-G-A
• MyVariant Identifiers: chr15:g.67358670G>A (hg19) ; chr15:g.67066332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066332G>A , CM000677.2:g.67066332G>A	GRCh38
NC_000015.9:g.67358670G>A , CM000677.1:g.67358670G>A	GRCh37
NC_000015.8:g.65145724G>A	NCBI36
NG_011990.1:g.5476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2388G>A	ENSP00000453082.2:n.-110+2388G>A
ENST00000560424.2:c.178G>A	ENSP00000455540.2:p.Val60Ile
ENST00000327367.9:c.178G>A MANE Select	ENSP00000332973.4:p.Val60Ile
ENST00000327367.8:c.178G>A	ENSP00000332973.4:p.Val60Ile
ENST00000559460.5:c.-110+2388G>A	ENSP00000453082.1:n.-110+2388G>A
NM_005902.3:c.178G>A	NP_005893.1:p.Val60Ile
XM_011521559.1:c.178G>A	XP_011519861.1:p.Val60Ile
XM_011521559.3:c.178G>A	XP_011519861.1:p.Val60Ile
NM_005902.4:c.178G>A MANE Select	NP_005893.1:p.Val60Ile