Canonical Allele Identifier: CA471505999
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017017
ClinVar RCV Id: RCV002851868
dbSNP Id: rs1861395261
gnomAD v3: 10-110602016-T-C
gnomAD v4: 10-110602016-T-C
MyVariant Identifiers: chr10:g.112361774T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602016T>C , CM000672.2:g.110602016T>C GRCh38
NC_000010.10:g.112361774T>C , CM000672.1:g.112361774T>C GRCh37
NC_000010.9:g.112351764T>C NCBI36
NG_012217.1:g.39326T>C , LRG_774:g.39326T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5176T>C
ENST00000685743.1:n.2651T>C
ENST00000686057.1:n.1294T>C
ENST00000689321.1:n.1906T>C
ENST00000689986.1:n.732T>C
ENST00000361804.5:c.2943T>C MANE Select ENSP00000354720.5:p.His981=
ENST00000361804.4:c.2943T>C ENSP00000354720.4:p.His981=
NM_005445.3:c.2943T>C , LRG_774t1:c.2943T>C NP_005436.1:p.His981=
NM_005445.4:c.2943T>C MANE Select NP_005436.1:p.His981=
Search 100 bp 5'
Search 100 bp 3'