Canonical Allele Identifier: CA378372033
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2716384
ClinVar RCV Id: RCV003503884
gnomAD v4: 10-110577485-G-A
COSMIC: COSM6035470
MyVariant Identifiers: chr10:g.112337243G>A (hg19) chr10:g.110577485G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577485G>A , CM000672.2:g.110577485G>A GRCh38
NC_000010.10:g.112337243G>A , CM000672.1:g.112337243G>A GRCh37
NC_000010.9:g.112327233G>A NCBI36
NG_012217.1:g.14795G>A , LRG_774:g.14795G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.396G>A
ENST00000687823.1:n.177G>A
ENST00000689932.1:n.2326G>A
ENST00000691297.1:n.396G>A
ENST00000691527.1:n.353G>A
ENST00000692792.1:n.382G>A
ENST00000361804.5:c.263G>A MANE Select ENSP00000354720.5:p.Arg88Gln
ENST00000361804.4:c.263G>A ENSP00000354720.4:p.Arg88Gln
ENST00000462899.1:n.409G>A
NM_005445.3:c.263G>A , LRG_774t1:c.263G>A NP_005436.1:p.Arg88Gln
NM_005445.4:c.263G>A MANE Select NP_005436.1:p.Arg88Gln
Search 100 bp 5'
Search 100 bp 3'