Canonical Allele Identifier: CA213230451
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1287430
ClinVar RCV Id: RCV001710557
dbSNP Id: rs7911129
gnomAD v2: 10-112340871-A-G
gnomAD v3: 10-110581113-A-G
gnomAD v4: 10-110581113-A-G
MyVariant Identifiers: chr10:g.112340871A>G (hg19) chr10:g.110581113A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110581113A>G , CM000672.2:g.110581113A>G GRCh38
NC_000010.10:g.112340871A>G , CM000672.1:g.112340871A>G GRCh37
NC_000010.9:g.112330861A>G NCBI36
NG_012217.1:g.18423A>G , LRG_774:g.18423A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.680+92A>G
ENST00000687823.1:n.461+92A>G
ENST00000689932.1:n.2610+92A>G
ENST00000691297.1:n.680+92A>G
ENST00000691527.1:n.1350+92A>G
ENST00000692792.1:n.666+92A>G
ENST00000361804.5:c.547+92A>G MANE Select ENSP00000354720.5:n.547+92A>G
ENST00000361804.4:c.547+92A>G ENSP00000354720.4:n.547+92A>G
ENST00000462899.1:n.693+92A>G
NM_005445.3:c.547+92A>G , LRG_774t1:c.547+92A>G NP_005436.1:n.547+92A>G
NM_005445.4:c.547+92A>G MANE Select NP_005436.1:n.547+92A>G
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