Canonical Allele Identifier: CA393203100

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2816431
• ClinVar RCV Id: RCV003643751
• MyVariant Identifiers: chr15:g.67358685A>T (hg19) ; chr15:g.67066347A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066347A>T , CM000677.2:g.67066347A>T	GRCh38
NC_000015.9:g.67358685A>T , CM000677.1:g.67358685A>T	GRCh37
NC_000015.8:g.65145739A>T	NCBI36
NG_011990.1:g.5491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2403A>T	ENSP00000453082.2:n.-110+2403A>T
ENST00000560424.2:c.193A>T	ENSP00000455540.2:p.Ile65Phe
ENST00000327367.9:c.193A>T MANE Select	ENSP00000332973.4:p.Ile65Phe
ENST00000327367.8:c.193A>T	ENSP00000332973.4:p.Ile65Phe
ENST00000559460.5:c.-110+2403A>T	ENSP00000453082.1:n.-110+2403A>T
NM_005902.3:c.193A>T	NP_005893.1:p.Ile65Phe
XM_011521559.1:c.193A>T	XP_011519861.1:p.Ile65Phe
XM_011521559.3:c.193A>T	XP_011519861.1:p.Ile65Phe
NM_005902.4:c.193A>T MANE Select	NP_005893.1:p.Ile65Phe