Canonical Allele Identifier: CA2184368563
Gene: SMAD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065938C= , CM000677.2:g.67065938C= GRCh38
NC_000015.9:g.67358276C= , CM000677.1:g.67358276C= GRCh37
NC_000015.8:g.65145330C= NCBI36
NG_011990.1:g.5082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1994C= ENSP00000453082.2:n.-110+1994C=
ENST00000560424.2:c.-217C= ENSP00000455540.2:n.-217C=
ENST00000327367.9:c.-217C= MANE Select ENSP00000332973.4:n.-217C=
ENST00000327367.8:c.-217C= ENSP00000332973.4:n.-217C=
ENST00000559460.5:c.-110+1994C= ENSP00000453082.1:n.-110+1994C=
NM_005902.3:c.-217C= NP_005893.1:n.-217C=
XM_011521559.1:c.-217C= XP_011519861.1:n.-217C=
NM_005902.4:c.-217C= MANE Select NP_005893.1:n.-217C=
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