Canonical Allele Identifier: CA5687790
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 805487
ClinVar RCV Id: RCV000993028
dbSNP Id: rs750925745
ExAC: 10:112341832 C / T
gnomAD v2: 10-112341832-C-T
gnomAD v3: 10-110582074-C-T
gnomAD v4: 10-110582074-C-T
MyVariant Identifiers: chr10:g.112341832C>T (hg19) chr10:g.110582074C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582074C>T , CM000672.2:g.110582074C>T GRCh38
NC_000010.10:g.112341832C>T , CM000672.1:g.112341832C>T GRCh37
NC_000010.9:g.112331822C>T NCBI36
NG_012217.1:g.19384C>T , LRG_774:g.19384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.832C>T
ENST00000687823.1:n.613C>T
ENST00000689932.1:n.2762C>T
ENST00000691297.1:n.832C>T
ENST00000691527.1:n.1502C>T
ENST00000692792.1:n.818C>T
ENST00000361804.5:c.699C>T MANE Select ENSP00000354720.5:p.Asn233=
ENST00000361804.4:c.699C>T ENSP00000354720.4:p.Asn233=
NM_005445.3:c.699C>T , LRG_774t1:c.699C>T NP_005436.1:p.Asn233=
NM_005445.4:c.699C>T MANE Select NP_005436.1:p.Asn233=
Search 100 bp 5'
Search 100 bp 3'