Canonical Allele Identifier: CA393203101

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2760004
• ClinVar RCV Id: RCV003527766
• MyVariant Identifiers: chr15:g.67358686T>A (hg19) ; chr15:g.67066348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066348T>A , CM000677.2:g.67066348T>A	GRCh38
NC_000015.9:g.67358686T>A , CM000677.1:g.67358686T>A	GRCh37
NC_000015.8:g.65145740T>A	NCBI36
NG_011990.1:g.5492T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2404T>A	ENSP00000453082.2:n.-110+2404T>A
ENST00000560424.2:c.194T>A	ENSP00000455540.2:p.Ile65Asn
ENST00000327367.9:c.194T>A MANE Select	ENSP00000332973.4:p.Ile65Asn
ENST00000327367.8:c.194T>A	ENSP00000332973.4:p.Ile65Asn
ENST00000559460.5:c.-110+2404T>A	ENSP00000453082.1:n.-110+2404T>A
NM_005902.3:c.194T>A	NP_005893.1:p.Ile65Asn
XM_011521559.1:c.194T>A	XP_011519861.1:p.Ile65Asn
XM_011521559.3:c.194T>A	XP_011519861.1:p.Ile65Asn
NM_005902.4:c.194T>A MANE Select	NP_005893.1:p.Ile65Asn