Canonical Allele Identifier: CA2575767626
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs2140188559
gnomAD v3: 15-67066110-G-T
gnomAD v4: 15-67066110-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066110G>T , CM000677.2:g.67066110G>T GRCh38
NC_000015.9:g.67358448G>T , CM000677.1:g.67358448G>T GRCh37
NC_000015.8:g.65145502G>T NCBI36
NG_011990.1:g.5254G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2166G>T ENSP00000453082.2:n.-110+2166G>T
ENST00000560424.2:c.-45G>T ENSP00000455540.2:n.-45G>T
ENST00000327367.9:c.-45G>T MANE Select ENSP00000332973.4:n.-45G>T
ENST00000327367.8:c.-45G>T ENSP00000332973.4:n.-45G>T
ENST00000559460.5:c.-110+2166G>T ENSP00000453082.1:n.-110+2166G>T
NM_005902.3:c.-45G>T NP_005893.1:n.-45G>T
XM_011521559.1:c.-45G>T XP_011519861.1:n.-45G>T
NM_005902.4:c.-45G>T MANE Select NP_005893.1:n.-45G>T
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