Canonical Allele Identifier: CA378387697
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2640827
ClinVar RCV Id: RCV003422874
dbSNP Id: rs1490996610
gnomAD v2: 10-112349673-C-G
gnomAD v4: 10-110589915-C-G
MyVariant Identifiers: chr10:g.112349673C>G (hg19) chr10:g.110589915C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589915C>G , CM000672.2:g.110589915C>G GRCh38
NC_000010.10:g.112349673C>G , CM000672.1:g.112349673C>G GRCh37
NC_000010.9:g.112339663C>G NCBI36
NG_012217.1:g.27225C>G , LRG_774:g.27225C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1333C>G
ENST00000684988.1:n.2078C>G
ENST00000687823.1:n.1347C>G
ENST00000689932.1:n.3496C>G
ENST00000691297.1:n.1566C>G
ENST00000691527.1:n.2236C>G
ENST00000692792.1:n.1552C>G
ENST00000361804.5:c.1433C>G MANE Select ENSP00000354720.5:p.Ala478Gly
ENST00000361804.4:c.1433C>G ENSP00000354720.4:p.Ala478Gly
NM_005445.3:c.1433C>G , LRG_774t1:c.1433C>G NP_005436.1:p.Ala478Gly
NM_005445.4:c.1433C>G MANE Select NP_005436.1:p.Ala478Gly
Search 100 bp 5'
Search 100 bp 3'