Canonical Allele Identifier: CA2629114701
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67065938-C-A
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Genomic Alleles

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

Transcript Alleles

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