Canonical Allele Identifier: CA393202762

Gene: SMAD3

Linked Data

• dbSNP Id: rs183418982
• gnomAD v2: 15-67358541-G-C
• gnomAD v4: 15-67066203-G-C
• MyVariant Identifiers: chr15:g.67358541G>C (hg19) ; chr15:g.67066203G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066203G>C , CM000677.2:g.67066203G>C	GRCh38
NC_000015.9:g.67358541G>C , CM000677.1:g.67358541G>C	GRCh37
NC_000015.8:g.65145595G>C	NCBI36
NG_011990.1:g.5347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2259G>C	ENSP00000453082.2:n.-110+2259G>C
ENST00000560424.2:c.49G>C	ENSP00000455540.2:p.Gly17Arg
ENST00000327367.9:c.49G>C MANE Select	ENSP00000332973.4:p.Gly17Arg
ENST00000327367.8:c.49G>C	ENSP00000332973.4:p.Gly17Arg
ENST00000559460.5:c.-110+2259G>C	ENSP00000453082.1:n.-110+2259G>C
NM_005902.3:c.49G>C	NP_005893.1:p.Gly17Arg
XM_011521559.1:c.49G>C	XP_011519861.1:p.Gly17Arg
XM_011521559.3:c.49G>C	XP_011519861.1:p.Gly17Arg
NM_005902.4:c.49G>C MANE Select	NP_005893.1:p.Gly17Arg