Canonical Allele Identifier: CA5687962
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618640
ClinVar RCV Id: RCV002094053
dbSNP Id: rs772063912
ExAC: 10:112349630 G / A
gnomAD v2: 10-112349630-G-A
gnomAD v3: 10-110589872-G-A
gnomAD v4: 10-110589872-G-A
MyVariant Identifiers: chr10:g.112349630G>A (hg19) chr10:g.110589872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589872G>A , CM000672.2:g.110589872G>A GRCh38
NC_000010.10:g.112349630G>A , CM000672.1:g.112349630G>A GRCh37
NC_000010.9:g.112339620G>A NCBI36
NG_012217.1:g.27182G>A , LRG_774:g.27182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1310-20G>A
ENST00000684988.1:n.2055-20G>A
ENST00000687823.1:n.1324-20G>A
ENST00000689932.1:n.3473-20G>A
ENST00000691297.1:n.1543-20G>A
ENST00000691527.1:n.2213-20G>A
ENST00000692792.1:n.1529-20G>A
ENST00000361804.5:c.1410-20G>A MANE Select ENSP00000354720.5:n.1410-20G>A
ENST00000361804.4:c.1410-20G>A ENSP00000354720.4:n.1410-20G>A
NM_005445.3:c.1410-20G>A , LRG_774t1:c.1410-20G>A NP_005436.1:n.1410-20G>A
NM_005445.4:c.1410-20G>A MANE Select NP_005436.1:n.1410-20G>A
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