Canonical Allele Identifier: CA618803165
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1402248385
gnomAD v2: 15-67358394-G-A
gnomAD v3: 15-67066056-G-A
gnomAD v4: 15-67066056-G-A
MyVariant Identifiers: chr15:g.67358394G>A (hg19) chr15:g.67066056G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066056G>A , CM000677.2:g.67066056G>A GRCh38
NC_000015.9:g.67358394G>A , CM000677.1:g.67358394G>A GRCh37
NC_000015.8:g.65145448G>A NCBI36
NG_011990.1:g.5200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2112G>A ENSP00000453082.2:n.-110+2112G>A
ENST00000560424.2:c.-99G>A ENSP00000455540.2:n.-99G>A
ENST00000327367.9:c.-99G>A MANE Select ENSP00000332973.4:n.-99G>A
ENST00000327367.8:c.-99G>A ENSP00000332973.4:n.-99G>A
ENST00000559460.5:c.-110+2112G>A ENSP00000453082.1:n.-110+2112G>A
NM_005902.3:c.-99G>A NP_005893.1:n.-99G>A
XM_011521559.1:c.-99G>A XP_011519861.1:n.-99G>A
NM_005902.4:c.-99G>A MANE Select NP_005893.1:n.-99G>A
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