Canonical Allele Identifier: CA378394461
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 816880
ClinVar RCV Id: RCV001007881
dbSNP Id: rs1278347837
gnomAD v2: 10-112361932-A-G
gnomAD v3: 10-110602174-A-G
gnomAD v4: 10-110602174-A-G
MyVariant Identifiers: chr10:g.112361932A>G (hg19) chr10:g.110602174A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602174A>G , CM000672.2:g.110602174A>G GRCh38
NC_000010.10:g.112361932A>G , CM000672.1:g.112361932A>G GRCh37
NC_000010.9:g.112351922A>G NCBI36
NG_012217.1:g.39484A>G , LRG_774:g.39484A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5334A>G
ENST00000685743.1:n.2809A>G
ENST00000686057.1:n.1452A>G
ENST00000689321.1:n.2064A>G
ENST00000689986.1:n.890A>G
ENST00000361804.5:c.3101A>G MANE Select ENSP00000354720.5:p.Lys1034Arg
ENST00000361804.4:c.3101A>G ENSP00000354720.4:p.Lys1034Arg
NM_005445.3:c.3101A>G , LRG_774t1:c.3101A>G NP_005436.1:p.Lys1034Arg
NM_005445.4:c.3101A>G MANE Select NP_005436.1:p.Lys1034Arg
Search 100 bp 5'
Search 100 bp 3'