Canonical Allele Identifier: CA2629114695
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67065931-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065931T>C , CM000677.2:g.67065931T>C GRCh38
NC_000015.9:g.67358269T>C , CM000677.1:g.67358269T>C GRCh37
NC_000015.8:g.65145323T>C NCBI36
NG_011990.1:g.5075T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1987T>C ENSP00000453082.2:n.-110+1987T>C
ENST00000560424.2:c.-224T>C ENSP00000455540.2:n.-224T>C
ENST00000327367.9:c.-224T>C MANE Select ENSP00000332973.4:n.-224T>C
ENST00000327367.8:c.-224T>C ENSP00000332973.4:n.-224T>C
ENST00000559460.5:c.-110+1987T>C ENSP00000453082.1:n.-110+1987T>C
NM_005902.3:c.-224T>C NP_005893.1:n.-224T>C
XM_011521559.1:c.-224T>C XP_011519861.1:n.-224T>C
NM_005902.4:c.-224T>C MANE Select NP_005893.1:n.-224T>C
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