Canonical Allele Identifier: CA272431360
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs937335895

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066007_67066011dup , CM000677.2:g.67066007_67066011dup GRCh38
NC_000015.9:g.67358345_67358349dup , CM000677.1:g.67358345_67358349dup GRCh37
NC_000015.8:g.65145399_65145403dup NCBI36
NG_011990.1:g.5151_5155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2063_-110+2067dup ENSP00000453082.2:n.-110+2063_-110+2067dup
ENST00000560424.2:c.-148_-144dup ENSP00000455540.2:n.-148_-144dup
ENST00000327367.9:c.-148_-144dup MANE Select ENSP00000332973.4:n.-148_-144dup
ENST00000327367.8:c.-148_-144dup ENSP00000332973.4:n.-148_-144dup
ENST00000559460.5:c.-110+2063_-110+2067dup ENSP00000453082.1:n.-110+2063_-110+2067dup
NM_005902.3:c.-148_-144dup NP_005893.1:n.-148_-144dup
XM_011521559.1:c.-148_-144dup XP_011519861.1:n.-148_-144dup
NM_005902.4:c.-148_-144dup MANE Select NP_005893.1:n.-148_-144dup