Canonical Allele Identifier: CA5687664
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906842
ClinVar RCV Id: RCV003612205
dbSNP Id: rs770562769
ExAC: 10:112337244 G / T
gnomAD v2: 10-112337244-G-T
gnomAD v4: 10-110577486-G-T
MyVariant Identifiers: chr10:g.112337244G>T (hg19) chr10:g.110577486G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577486G>T , CM000672.2:g.110577486G>T GRCh38
NC_000010.10:g.112337244G>T , CM000672.1:g.112337244G>T GRCh37
NC_000010.9:g.112327234G>T NCBI36
NG_012217.1:g.14796G>T , LRG_774:g.14796G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.397G>T
ENST00000687823.1:n.178G>T
ENST00000689932.1:n.2327G>T
ENST00000691297.1:n.397G>T
ENST00000691527.1:n.354G>T
ENST00000692792.1:n.383G>T
ENST00000361804.5:c.264G>T MANE Select ENSP00000354720.5:p.Arg88=
ENST00000361804.4:c.264G>T ENSP00000354720.4:p.Arg88=
ENST00000462899.1:n.410G>T
NM_005445.3:c.264G>T , LRG_774t1:c.264G>T NP_005436.1:p.Arg88=
NM_005445.4:c.264G>T MANE Select NP_005436.1:p.Arg88=
Search 100 bp 5'
Search 100 bp 3'