Canonical Allele Identifier: CA5688313
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs776323402
ExAC: 10:112361759 A / G
gnomAD v2: 10-112361759-A-G
gnomAD v3: 10-110602001-A-G
gnomAD v4: 10-110602001-A-G
MyVariant Identifiers: chr10:g.112361759A>G (hg19) chr10:g.110602001A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602001A>G , CM000672.2:g.110602001A>G GRCh38
NC_000010.10:g.112361759A>G , CM000672.1:g.112361759A>G GRCh37
NC_000010.9:g.112351749A>G NCBI36
NG_012217.1:g.39311A>G , LRG_774:g.39311A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5161A>G
ENST00000685743.1:n.2636A>G
ENST00000686057.1:n.1279A>G
ENST00000689321.1:n.1891A>G
ENST00000689986.1:n.717A>G
ENST00000361804.5:c.2928A>G MANE Select ENSP00000354720.5:p.Leu976=
ENST00000361804.4:c.2928A>G ENSP00000354720.4:p.Leu976=
NM_005445.3:c.2928A>G , LRG_774t1:c.2928A>G NP_005436.1:p.Leu976=
NM_005445.4:c.2928A>G MANE Select NP_005436.1:p.Leu976=
Search 100 bp 5'
Search 100 bp 3'