Canonical Allele Identifier: CA5688282
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 774048
ClinVar RCV Id: RCV000953929 RCV003935823
dbSNP Id: rs202034783
ExAC: 10:112361532 C / A
gnomAD v2: 10-112361532-C-A
gnomAD v3: 10-110601774-C-A
gnomAD v4: 10-110601774-C-A
MyVariant Identifiers: chr10:g.112361532C>A (hg19) chr10:g.110601774C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601774C>A , CM000672.2:g.110601774C>A GRCh38
NC_000010.10:g.112361532C>A , CM000672.1:g.112361532C>A GRCh37
NC_000010.9:g.112351522C>A NCBI36
NG_012217.1:g.39084C>A , LRG_774:g.39084C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5015C>A
ENST00000685743.1:n.2490C>A
ENST00000686057.1:n.1133C>A
ENST00000689321.1:n.1745C>A
ENST00000689986.1:n.571C>A
ENST00000361804.5:c.2782C>A MANE Select ENSP00000354720.5:p.Arg928=
ENST00000361804.4:c.2782C>A ENSP00000354720.4:p.Arg928=
NM_005445.3:c.2782C>A , LRG_774t1:c.2782C>A NP_005436.1:p.Arg928=
NM_005445.4:c.2782C>A MANE Select NP_005436.1:p.Arg928=
Search 100 bp 5'
Search 100 bp 3'